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It is the seventh mutation in the ND6 gene leading to LHON. Paper-9369449.
A patient with two mitochondrial DNA mutations causing PEO and LHON. Paper-13570356.
However, screening LHON patients for MS appears to be more rewarding. Paper-8578455.
Primary LHON mutations were not detected in any other MS patient or control. Paper-1183809.
However, none of the MS patients exhibited any pathogenic LHON mtDNA mutations. Paper-8869639.
A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family. Paper-11254302.
We describe four patients with spastic dystonia from two of our 35 LHON families. Paper-474669.
Given the population frequencies of MS and LHON, coincidental occurrence is unlikely. Paper-313812.
Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation. Paper-11264733.
A single MS patient carrying a virtually homoplasmic LHON mutation at np 11778 was found. Paper-1183809.
Glutathione depletion in antioxidant defense of differentiated NT2- LHON cybrids. Paper-13136166.
No correlation of blood DNA analysis between LHON and FSHD in affected members was found. Paper-11237967.
We attempted to determine which MS patients should be evaluated further for LHON mutations. Paper-1853543.
Notably, the aldose reductase transcript was overexpressed in LHON cybrids and lymphoblasts. Paper-11025866.
LHON/ MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. Paper-11189593.
The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. Paper-11050845.
The aim of this study was to characterize the antioxidant defences of these LHON-affected cells. Paper-10749313.
Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families. Paper-9291358.
No patient had a primary LHON mutation or a pathologic sequence change in OPA1 or OPA3 genes. Paper-12505722.
A significant proportion of LHON patients had circulating antibodies to tubulin protein. Paper-501929.
We tested this location in four LHON families, with DXS7 and two flanking markers, OTC and DXS426. Paper-77864.
Despite ND5 being the largest of the mtDNA complex I genes, ND5 mutations are quite rare in LHON. Paper-11050845.
Leber's Hereditary Optic Neuropathy ( LHON) with 14484/ ND6 mutation in a North African patient. Paper-1738521.
The sensitivity of cells bearing the LHON, MELAS, and MERRF mutations to oxidant stress was determined. Paper-1216405.
CONCLUSIONS: On the basis of OCT data, the RNFL is thickened in E- LHON and severely thinned in A- LHON. Paper-10741702.
CONCLUSION: Diagnosis of LHON should be considered in familial cases and in young adults with optic atrophy. Paper-10978519.
In 11 cases (23%) the diagnosis of LHON could be confirmed (3460, 1; 9804, 1; 11778, 5; 14484, 3; 15257, 1). Paper-835656.
This finding shows that, in addition to ND6, the ND1 subunit gene is also a mutational hot spot for LHON. Paper-11428098.
We report a male patient with Leber's hereditary optic neuropathy ( LHON) and hypertrophic cardiomyopathy. Paper-9735336.
Secondary LHON mutations were identified more frequently in control subjects than in the children with MS. Paper-1834469.
METHODS: Ten patients with LHON, four with LHON- MS, and 20 age and sex matched healthy controls were studied. Paper-8767175.
In conclusion, we found no evidence for any association between MS and the LHON mutation in the Korean population. Paper-8869639.
Recent reports have documented families with dystonia in association with LHON and mtDNA complex I gene mutations. Paper-961655.
Leber's hereditary optic neuropathy ( LHON) with mitochondrial ND4 gene mutation (11778) in a Thai patient. Paper-1785478.
We describe two LHON pedigrees that harbour the same novel point mutation within the mtDNA ND6 gene (A14495G). Paper-8689410.
To our knowledge, this is the first case of LHON with dystonia that revealed a mtDNA mutation in a Japanese family. Paper-11367991.
We report here the characterization of a new primary LHON mutation in the mtDNA ND4L gene at nucleotide pair 10663. Paper-9159778.
CLINICAL RELEVANCE: Gene therapy with antioxidant genes may protect patients with LHON against visual loss. Paper-13105421.
CONCLUSIONS: Genetic variation in MTHFR does not provide an explanation for the variable phenotype in LHON. Paper-13757161.
Present data do not support any contribution of primary LHON mutations to genetically determined susceptibility in MS. Paper-1183809.
CONCLUSION: Data from this study do not support a strong role for the OPTN Met98Lys variant in glaucoma, ADOA or LHON. Paper-12281957.
However, sequencing analysis establishes that the Vic2 and Tas2 LHON families do not carry these cytochrome b mutations. Paper-7205335.
If these results are confirmed in patient tissues, aldose reductase inhibitors could have some therapeutic value for LHON. Paper-11025866.
CONCLUSIONS: Our findings confirm previous reports which found that both LHON mutations are rare in unselected MS patients. Paper-1853543.
A very small subgroup of MS patients, usually with prominent optic neuritis (PON), may carry pathogenic LHON mutations. Paper-1672992.
None of the three major mutations associated with LHON (G3460A, G11778A, T14484C) was found among Familial NA-AION patients. Paper-12945788.
Currently three theories of pathomechanism of LHON are considered: biochemical, ROS (reactive oxygen species) and apoptotic. Paper-10066412.
Multiple sclerosis ( MS) and Leber's hereditary optic neuropathy ( LHON) have been found to occur in combination. Paper-8578455.
We suggest a search for the LHON mutation in MS patients with predominant visual impairment, independent of patients' gender. Paper-9326740.
De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology. Paper-11369211.
Its presence was determined for 23 Finnish LHON families, and it was detected in two families harboring the ND4/11,778 mutation. Paper-104872.
We report MRI findings in two patients with LHON- MS and comment on possible distinguishing features of this disease entity. Paper-13186896.
We found no evidence of association between visual failure in LHON and MTHFR polymorphisms or the MTHFR haplotype. Paper-13757161.
In this report, we present evidence for a de novo heteroplasmic COX2 mutation associated with a LHON clinical phenotype. Paper-11369211.
All patients had a primary LHON mutation in their mtDNA, but also a subnormal vitamin B12 serum level at the time of presentation. Paper-12240019.
This combination of LHON and MS-like disease is rare in both sexes, and in men has been described in only a few case reports. Paper-9326740.
Visual recovery to such extent after this latency is uncommon in both mtDNA 11778 LHON mutation and optic neuritis (ON) in MS. Paper-9326740.
These results further support that the 14,459 G --> A transition mutation is causally related to LHON and spasticity/ dystonia. Paper-10543990.
Visual recovery in a man with the rare combination of mtDNA 11778 LHON mutation and a MS-like disease after mitoxantrone therapy. Paper-9326740.
Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy ( LHON) and multiple sclerosis. Paper-12689044.
As this lineage diverged into two precisely defined haplogroups, LHON and DIDMOAD could be assigned to the two haplogroups separately. Paper-1253529.
Our results suggest to include the mutation at np 15,257 in a routine screening as well as the ND6 gene, a hot spot for LHON mutations. Paper-9218130.
This family has similar clinical characteristics as the previously described families with LHON and dystonia with an ND6 mutation. Paper-13285939.
For over a year we followed the ophthalmological course of this 24-year-old male with LHON treated with idebenone and vitamin B12. Paper-1738521.
The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ ND4 pathogenic mutation is described. Paper-9102872.
Mutational analysis of mitochondrial DNA revealed the presence of homoplasmic ND6 T14484C mutation, which has been associated with LHON. Paper-12062203.
CONCLUSIONS: The 3697G>A/ ND1 mitochondrial DNA mutation causes the LHON and spastic dystonia phenotype in the same family. Paper-13285939.
CONCLUSIONS: The clinical picture of optic neuropathy associated with vitamin B12 deficiency shows similarity to that of LHON. Paper-12240019.
This case might support the hypothesis of an immunological pathogenetic factor in combined LHON and MS, and possibly in LHON alone. Paper-9326740.
Mutations in the human mtDNA gene encoding subunit III of cytochrome c oxidase (CO) have been reported to cause MELAS and LHON. Paper-1560892.
Cosegregation of the ND4 G11696A mutation with the LHON- associated ND4 G11778A mutation in a four generation Chinese family. Paper-13144217.
RESULTS: The mean values of optic nerve volumes and MTR were significantly lower in patients with LHON than in healthy controls. Paper-8767175.
This is the seventh mutation in the ND6 gene that causes optic neuropathy, indicating that this gene is a hot spot for LHON mutations. Paper-8689410.
Leber's hereditary optic neuroretinopathy ( LHON) is manifested as a bilateral acute or subacute loss of central vision due to optic atrophy. Paper-11774354.
A LHON family from the Newcastle area of Great Britain was analyzed in depth to determine the mitochondrial genetic etiology of their disease. Paper-7178719.
CONCLUSION: Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON. Paper-11582671.
A subtype of LHON presents additional clinical and MRI aspects indistinguishable from those of multiple sclerosis ( MS) ( LHON- MS). Paper-8767175.
Moreover, NDUFB11 did not seem to influence risk and age at onset of visual loss in a total of 65 individuals from 35 Italian LHON families. Paper-13123618.
Leber's hereditary optic neuropathy ( LHON) can be difficult to distinguish from optic neuritis due to multiple sclerosis ( MS). Paper-1846254.
We constructed and compared cybrid cell lines obtained from two unrelated LHON patients both carrying the common 11778/ ND4 primary mutation. Paper-243995.
Optic nerve volume and MTR value and mean NABT- MTR were lower in patients with LHON- MS than in those with LHON. Paper-8767175.
Similarly, complex IV mutation COI/7444 was screened in Finnish LHON families, and it was found in one family carrying the ND1/3460 mutation. Paper-104872.
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON- associated ND4 G11778A mutation. Paper-10827597.
We describe the clinical and molecular genetic findings in a LHON patient and his family with a new mtDNA mutation at np14568 in the ND6 gene. Paper-2006168.
The patient suffered a sequential optic neuropathy with the hallmarks of LHON and tested positive for the homoplasmic 11778G--> A/ ND4 mutation. Paper-12458585.
We report the effect on complex I function of the 14484 Leber's hereditary optic neuropathy ( LHON) mutation affecting the ND6 subunit gene. Paper-1770644.
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/ MELAS overlap syndrome and may be a frequent cause of MELAS. Paper-2039092.
Wolfram ( DIDMOAD) syndrome and Leber hereditary optic neuropathy ( LHON) are associated with distinct mitochondrial DNA haplotypes. Paper-927728.
No statistically significant differences of MTR, D or FA values were found for any of the regions studied in LHON patients and healthy controls. Paper-9039475.
Thus, the difficult to compensate the mitochondrial energetic deficiency could explain the accumulation of J haplogroup in LHON and multiple sclerosis. Paper-13626926.
Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. Paper-801990.
All three primary LHON mutations occurring in the European and North American populations have been found to be associated with an MS-like syndrome. Paper-8578455.
The majority of LHON cases are caused by one of the three primary mitochondrial DNA (mtDNA) mutations: G3460A/ ND1, G11778A/ ND4, or T14484C/ ND6. Paper-12066827.
A significant association was observed between one SNP, A10398G, resulting in a Thr114Ala substitution in the ND3 subunit, and the primary LHON mutation. Paper-9273877.
OBJECTIVES: Leber's hereditary optic neuropathy ( LHON) can be difficult to distinguish from optic neuritis seen in multiple sclerosis ( MS). Paper-1853543.
All were significantly more sensitive to H2O2 exposure than their nonmutant cybrid controls, the order of sensitivity was MELAS > LHON > MERRF > controls. Paper-1216405.
From this study it appears that migraine with prolonged aura is not an oligosymptomatic form of MELAS and is not related to secondary LHON mutations. Paper-10532801.
The subjects were tested for the three common mutations seen in LHON by molecular techniques of polymerase chain reaction using mutation specific primers. Paper-10978519.
The distribution patterns among the haplogroups of the disease groups ( LHON, DIDMOAD and SIDS) differed considerably from the control population. Paper-1253529.
These findings suggest that the mtDNA ND6 gene should be sequenced in all patients with LHON who do not harbour one of the three common LHON mutations. Paper-8689410.
To our knowledge, this is the first report that identified the co-existence of a deafness mutation A1555G and a primary LHON mutation G11778A in one family. Paper-12958259.
BACKGROUND: Nuclear genes are suggested to be involved in the pathogenesis of Leber's hereditary optic neuropathy ( LHON) but it has not been confirmed. Paper-10065971.
MTR and histogram analysis suggests that microscopic brain damage occurs in LHON and that it is more severe in the MS-like form of the disease. Paper-8767175.
The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON- associated ND4 G11778A mutation in a Chinese family. Paper-12044659.
MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific point mutations of mitochondrial DNA (mtDNA). Paper-13760374.
Leber Hereditary Optic Neuropathy ( LHON) is a maternally inherited form of visual loss, due to selective degeneration of retinal ganglion cells. Paper-12284007.
A rare form of Leber hereditary optic neuropathy ( LHON) that is associated with hereditary spastic dystonia has been studied in a large Dutch family. Paper-560454.
METHODS: We screened 103 clinically definite MS patients (age range from 18 to 72 years, 27 men and 76 women) for the LHON nt-11778 and nt-3460 mtDNA mutations. Paper-1853543.
RESULTS: The mutations G3460A and G11778A in the mitochondrial genes MTND1 and MTND4, known to be causative for LHON, were found in one family each. Paper-10978519.
About two-thirds of patients with Leber hereditary optic neuroretinopathy ( LHON) harbor mutations in mitochondrial DNA at positions 11778 ( ND4) or 3460 ( ND1). Paper-8001461.
None of the several known mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy ( LHON) or with LHON with dystonia were detected. Paper-1212254.
We report a 12-year-old girl who presented with reduced visual acuity secondary to optic atrophy at 8 months of age, which led to a clinical diagnosis of LHON. Paper-13138023.
Leber hereditary optic neuropathy ( LHON) has been associated with a mitochondrial mutation at position 11,778 in the ND4 gene in about 50% of families. Paper-7756924.
OBJECTIVE: To report a novel mutation that is associated with Leber hereditary optic neuropathy ( LHON) within the same family affected by spastic dystonia. Paper-13285939.
To further study this association, we tested 42 index patients with clinically definite, familial MS for the LHON mtDNA mutations at nt-3460, nt-11778, and nt-14484. Paper-1846254.
Characterization of the mitochondrial genome in childhood multiple sclerosis. II. Multiple sclerosis without optic neuritis and LHON-associated genes. Paper-1834469.
The present case reports suggest that optic neuropathy in patients carrying a primary LHON mtDNA mutation may be precipitated by vitamin B12 deficiency. Paper-12240019.
Leber's hereditary optic neuropathy ( LHON) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy in young adults. Paper-12117591.
G11778A in the subunit ND4 gene of NADH dehydrogenase complex is the most common primary mutation found in Leber's hereditary optic neuropathy ( LHON) patients. Paper-13189798.
However, single or multiple "secondary" LHON- associated sequence changes at 4216/ ND1, 4917/ ND2, and 13708/ ND5 were detected in ON and ON- MS patients. Paper-507674.
A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene in human mtDNA was found to be associated with Leber hereditary optic neuroretinopathy ( LHON). Paper-32555.
In conclusion, the caspase-independent death of LHON cybrids incubated in galactose medium is triggered by rapid ATP depletion and mediated by AIF and EndoG. Paper-11449886.
Both CSF of LHON or MS patients are characterized by lower level of transthyretin dimer adduct while a specific up regulation of Apo A-IV was detected in LHON CSF. Paper-12689044.
Here we report the clinical and molecular genetic findings of a LHON patient with a new mitochondrial DNA mutation at np 11253 in the ND4 gene and spontaneous recovery. Paper-9171355.
We report the clinical and genetic study of a Leber's Hereditary Optic Neuropathy ( LHON) patient of North African origin harboring the 14484/ ND6 mutation of mtDNA. Paper-1738521.
This mutation has been reported in families presenting with LHON alone, LHON plus dystonia, or pediatric dystonia with typical age of onset less than 5 years. Paper-10543991.
BACKGROUND: Leber hereditary optic neuropathy ( LHON) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy in young adults. Paper-12275081.
Finally, analysis of the mtDNA sequences from those pedigrees that did not carry classic LHON mutations suggested candidate pathogenic mutations at nts 9804, 13051, and 14325. Paper-9740473.
In this study, we report a severe decrease of complex I activity in cultured skin fibroblasts isolated from two LHON patients harboring mutations in ND4 or ND1 genes. Paper-12991723.
We compared mtDNA variants identified in DIDMOAD patients with those found in LHON patients as well as in a control group consisting of 67 healthy German blood donors. Paper-927728.
RESULTS: Whereas primary LHON mutations are not detected, MS patients show a higher percentage of secondary LHON mutations, usually in a combinatorial manner, than controls. Paper-870173.
Herein we report the clinical and the most relevant molecular genetic findings obtained in a LHON family with a new mitochondrial DNA mutations at np 14498 in the ND 6 gene. Paper-774119.
METHODS: Conventional and magnetization transfer magnetic resonance images of the ONs were obtained from 30 patients with MS, 18 healthy volunteers, and 10 patients with LHON. Paper-9193940.
The LHON mutation as well as several other mutations in strictly conserved amino acids in its vicinity were introduced into the NQO8 subunit of NDH-1, a bacterial homologue of ND1. Paper-1540530.
Because no case of LHON presenting with cardiomyopathy has been reported, the present finding suggests that the G12192A mutation caused cardiomyopathy as an additional symptom. Paper-9735336.
RESULTS: We therefore determined whether functional genetic variants in MTHFR could account for the reduced penetrance in LHON by studying 414 LHON mtDNA mutation carriers. Paper-13757161.
Our findings support the hypothesis that the genetically determined mitochondrial dysfunction in LHON patients leads to impaired activity of the EAAT1 glutamate transporter. Paper-10632210.
Whilst both mutations affect subunit 6 of the proton-translocating F0 segment, the LHON mutation induces a proton leak whereas the NARP mutation blocks proton translocation. Paper-1126525.
We describe the first family with FSHD and G11778A LHON in which a mutation in mitochondrial DNA at nucleotide position 11778 of branch 'a' was found to be the origin of the mutation. Paper-11237967.
Among the 18 LHON patients who tested for additional mutations, 1 proband harboured the 9804 mutation and 4 carried the secondary mutations at nucleotide positions 4216, 4917 and 13708. Paper-8778189.
We conclude that the 3733G-->A transition is a novel cause of LHON and, after those at positions 3460 and 4171, is the third ND1 mutation to be identified in multiple unrelated families. Paper-11428098.
We investigated whole blood cell DNA of 14 patients with MELAS-related mitochondriopathy and two patients with the LHON-associated G11778A mutation of the mitochondrial genome. Paper-1077738.
CONCLUSIONS: We have identified that the mutation at nucleotide position 14482 which is the eight mutation in the ND6 gene that causes LHON, making this gene a hot spot for the disease. Paper-9421825.
Treatment of MELAS, LHON, and MERRF cells with cyclosporin A caused significant rescue from oxidant exposure, and in each case significantly greater rescue of mutant than control cells. Paper-1216405.
Mean complex I polymorphic frequencies in cytopathic ( CPEO, MERRF, MELAS and LHON collectively) patients and in LHON patients differed significantly from controls (P < or = 0.05, t). Paper-8209640.
The sequence analysis of the ND81 gene was extended to a further 11, unrelated LHON pedigrees that had been screened previously and found not to carry the mitochondrial ND4/R340H mutation. Paper-7178719.
Several different mitochondrial DNA (mtDNA) sites for mutations of Leber's hereditary optic neuropathy ( LHON) have been reported to be present in patients with multiple sclerosis ( MS). Paper-8869639.
More recently, we carried out a biochemical, molecular, and cellular analysis of a mutation in the gene for one of these subunits, ND4, that causes Leber's hereditary optic neuropathy ( LHON). Paper-9140097.
One product of aldose reductase is sorbitol, which has been linked to osmotic stress, oxidative stress and optic neuropathy, and sorbitol levels were increased in LHON cybrids. Paper-11025866.
Preferential maternal transmission in familial cases and the occasional association of multiple sclerosis ( MS) and LHON suggests an involvement of mtDNA mutations in the aetiology of MS. Paper-870173.
We examined the frequencies of secondary mutations of mtDNA at nt3394, 7444, 9438, 9804, 13708, and 15257 in 19 Japanese patients with LHON associated with primary mutations and 108 normal controls. Paper-8338955.
LHON and DIDMOAD were significantly under-represented in the most frequent German haplogroup DC, but were concentrated in a mtDNA lineage defined by polymorphisms at nt 4216 + 11251 + 16126. Paper-1253529.
Mitochondria, carrying the homoplasmic 11778/ ND4, 3460/ ND1 and 14484/ ND6 mtDNA point mutations associated with LHON, were used to generate osteosarcoma-derived cybrids. Paper-10749313.
An association of LHON and MS has been suspected for decades, and, recently, the LHON nt-11778 and nt-3460 mtDNA mutations have been found in several patients with MS or MS-like disease. Paper-1853543.
The new sequence variant of A9016G in the ATPase 6 gene changed highly conserved amino acid of isoleucine to valine, has not been found in the rest of 13 LHON patients and controls. Paper-11061514.
PURPOSE: To investigate the role of mitochondrial haplotypes in the development of Leber's hereditary optic neuropathy ( LHON) associated with the ND4 G11778A mutation in Chinese families. Paper-13651277.
The complex I function in sub-mitochondrial particles was studied in platelets from patients and healthy carriers with 11778/ ND4 or 3460/ ND1 mtDNA point mutations associated with LHON. Paper-1205481.
PURPOSE: To investigating the role of mitochondrial haplotypes in the development of Leber's hereditary optic neuropathy ( LHON) associated with the ND4 G11778A mutation in Chinese families. Paper-10827597.
PARTICIPANTS AND METHODS: Ophthalmological and molecular genetic study of one affected and three unaffected members from a family with heteroplasmic ND1/3460 mtDNA mutation associated with LHON. Paper-9408097.
The SPP and PPP paradigms can identify contrast and temporal processing deficits in asymptomatic LHON carriers, and thus provide an additional tool for early detection and characterization of the disease. Paper-12867440.
OBJECTIVE: To explore a treatment paradigm for Leber hereditary optic neuropathy ( LHON), we augmented mitochondrial antioxidant defenses to rescue cells with the G11778A mutation in mitochondrial DNA. Paper-13105421.
In contrast, in galactose, GSSG concentrations increased significantly in all cells, indicating severe oxidative stress, whereas GR and MnSOD activities further decreased in all LHON cybrids. Paper-10749313.
This study indicates that the G13513A transition is likely to be pathogenic, that it can cause an LHON/ MELAS overlap syndrome, and that it may be a more frequent cause of MELAS than previously recognized. Paper-2039092.
We describe a young man with prognostic unfavourable homoplasmatic mitochondrial DNA(mt DNA) 11778 Leber's hereditary optic neuropathy ( LHON) point mutation and confirmed multiple sclerosis ( MS). Paper-9326740.
This partial overlap between the two diseases may be related to the association of MS with a mtDNA haplotype (a set of mtDNA polymorphisms) within which pathogenic LHON mutations preferentially occur. Paper-1672992.
These data suggest that, in cells carrying LHON mutations, there is a decrease in antioxidant defences, which is especially evident in cells with mutations associated with the most severe clinical phenotype. Paper-10749313.
Despite repeated clinical reports including MRI and histopathological examination of the visual system, neuropathological descriptions of LHON associated with multiple sclerosis-like syndrome are lacking. Paper-10807430.
Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical ND4 G11696A mutation associated with LHON. Paper-10824420.
RESULTS: Two (22%) of 9 COPN patients harbored an LHON- associated mtDNA mutation at nucleotide position 9438 and a novel mutation at nucleotide position 9738 in the cytochrome c oxidase subunit III gene. Paper-8052729.
The human mitochondrial ND1/3460 mutation changes Ala52 to Thr in the ND1 subunit of Complex I, and causes Leber's hereditary optic neuropathy ( LHON) [Huoponen et al. (1991) Am. J. Hum. Genet. 48, 1147]. Paper-1540530.
We searched for the presence of LHON mitochondrial mutations at nucleotide positions (np) 11,778, 3,460, and 14,484 by mutation-specific polymerase chain reaction and restriction fragment length polymorphism. Paper-10403686.
Therefore, we conclude that pathogenic LHON mtDNA mutations are absent or rare in unselected patients with familial, clinically definite MS (95% confidence intervals for each of the negative mutations 0-7.0%). Paper-1846254.
The association of the ND4 gene mutation (mutation) at nucleotide position 11778 of mitochondrial DNA (mtDNA) was investigated in 14 definitive Japanese pedigrees with Leber hereditary optic neuropathy ( LHON). Paper-65837.
Here we report the first heteroplasmic mitochondrial DNA (mtDNA) point mutation (3376G>A) in the MTND1 gene associated with an overlap syndrome comprising the clinical features of both LHON and MELAS. Paper-11189593.
AIMS: To investigate the role of the common OPTN Met98Lys variant as a risk allele in open-angle glaucoma (OAG), autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy ( LHON). Paper-12281957.
RESULTS: We studied X-inactivation by measuring methylation status of the androgen receptor (AR)-(CAG)(n) repeat in 192 women homoplasmic for established LHON mtDNA mutations and 96 healthy female controls. Paper-13443617.
In addition to cytochrome c, apoptosis inducing factor ( AIF) and endonuclease G (EndoG) were also released from the mitochondria into the cytosol in LHON cybrids, but not in control cells. Paper-11449886.
CONCLUSION: The new mutation at nucleotide position 14568 lies in the close vicinity of other LHON-related mutations (np14459, np14484, np14498, np14596) within the evolutionarily most conserved region of the ND6 gene. Paper-2006168.
We analyzed for nine point mutations reported in patients with MELAS (A3243G, C3256T, T3271C, T3291C, A5814G, T8356C, T9957C, G13513A, and A13514G) and three secondary LHON mutations (T4216C, A4917G, and G13708A). Paper-10532801.
These results suggest that the antioxidant capacity is reduced in the blood of patients with LHON and in asymptomatic relatives, and that oxidative stress plays a significant role in the pathogenesis of LHON. Paper-12815428.
Mean NABT- MTR histogram peak height was significantly lower in patients with LHON than in controls, whereas no significant difference was found for any of the cervical cord MTR histogram derived measures. Paper-8767175.
We have investigated whether the release of cytochrome c during incubation of LHON cybrids in galactose medium leads to activation of the executive caspase-3 and to alteration of the energetic status of cells. Paper-10182605.
To investigate whether Leber's hereditary optic neuropathy ( LHON) could be caused by mutations in OPA1 we also screened a panel of 28 LHON patients who tested negatively for the three major LHON mutations. Paper-9012442.
No patients had a pathogenic LHON mtDNA mutation; however, two MS patients with unilateral optic neuritis harbored the nt-15257 mtDNA polymorphism that was reported originally as a pathogenic LHON mutation. Paper-1846254.
The 14484 mutation in the ND6 gene of mitochondrial DNA (mtDNA) is a genetic mutation associated with Leber's hereditary optic neuropathy ( LHON) in Caucasian patients who show a high incidence of visual recovery. Paper-1077752.
Exposure of isolated nuclei to cytosolic fractions from LHON cybrids maintained in galactose medium caused nuclear fragmentation, which was strongly reduced by immuno-depletion with anti- AIF and anti-EndoG antibodies. Paper-11449886.
RESULTS: The mean relative content of mtDNA (with respect to the beta actin gene) in LHON patients, asymptomatic maternal relatives, and normal controls was 245.5 (162.3), 238.2 (118.4), and 156.5 (61.6), respectively. Paper-9219728.
We found that a cluster of nucleotide exchanges at nucleotide positions (nps) 4216 and 11,251 roughly discriminates controls (12/67 controls, 18%) from the disease groups (6/8 DIDMOAD patients, 75%; 10/17 LHON patients, 59%). Paper-927728.
Moreover, we also document the mitochondrial involvement in the activation of the apoptotic cascade, as shown by the increased release of cytochrome c into the cytosol in LHON cybrid cells as compared with controls. Paper-9801032.
Biochemical and molecular genetic evidence is presented that in six independent pedigrees the development of Leber hereditary optic neuropathy ( LHON) is due to the same primary mutation in the mitochondrial ND1 gene. Paper-7178719.
These studies provide the first direct evidence that not all LHON lineages--even those associated with a biochemical defect in mitochondrial respiratory chain Complex I--carry a mutation in the ND4 gene. Paper-6656211.
Given the clinical similarities of subnormal vitamin B12, LHON, and nutritional/tobacco amblyopia, deficiency of adenosine triphosphate might be a unifying etiology for several types of optic neuropathy. Paper-150449.
The findings that OPA1-type DOA, as Leber optic neuropathy, is caused by the impairment of a mitochondrial protein address the question of the vulnerability of the retinal ganglion cell in response to mitochondrial defects. Paper-9383565.
However, the association of LHON mutations with visual impairment in MS as well as the relationship between phenotypic diversity in certain subgroups of patients with individual mtDNA genotypes merits further investigations. Paper-1834469.
To create an animal model of Leber Hereditary Optic Neuropathy ( LHON), we introduced the human ND4 gene harboring the G11778A mutation, responsible of 60% of LHON cases, to rat eyes by in vivo electroporation. Paper-12932719.
RESULTS: The most common LHON-related mtDNA point mutations at nucleotide positions (nps) 11778, 14484, 4216, could be detected by SSCP analysis, as well as the heteroplasmic np 3243 MELAS associated point mutation. Paper-499713.
BACKGROUND: Overlapping phenotypes including LHON, MELAS, and Leigh syndrome have recently been associated with numerous mtDNA point mutations in the ND5 gene of complex I, now considered a mutational hot spot. Paper-12054538.
A guanine(G) to adenine(A) transition was recently identified at the 11778th nucleotide position in the NADH dehydrogenase subunit 4 gene ( ND4) in the mitochondrial genome of LHON patients from various ethnic groups. Paper-7853532.
A number of mtDNA mutations with primary pathogenic significance for LHON, a maternally inherited disease causing severe bilateral visual loss predominantly in young men, have been detected in patients with an MS-like phenotype. Paper-10403686.
This mutation, which affects an evolutionary conserved amino acid (D393N), has been previously reported in adult patients with MELAS or LHON/ MELAS syndromes, emphasising the clinical heterogeneity of mitochondrial DNA mutations. Paper-9788361.
However, the frequency of ND4/11778-positive families in haplogroup J was high, which may indicate that background mutations in this haplogroup together with the ND4/11778 primary mutation promote the penetrance of LHON. Paper-1272828.
We found that 4/7 (57%) DIDMOAD patients harbored a specific set of point mutations in tRNA and ND genes including the so-called class II or secondary LHON mutations at nucleotide positions (nps) 4216 and 4917 (haplogroup B). Paper-1194027.
To investigate the damage to the optic nerve in an early stage of LHON as compared with optic neuritis (ON), including MS, we examined patients by testing their pattern visual evoked potential (PVEP) and flash VEP (FVEP). Paper-1319291.
The LHON-specific increase in transcript level was confirmed by quantitative reverse transcription-polymerase chain reaction ( RT-PCR), and a western blot confirmed a higher level of aldose reductase in mutant mitochondria. Paper-11025866.
For several decades an association of LHON and MS has been suspected, and within the past 7 years the LHON nucleotide (nt)-3460 and nt-11778 mtDNA mutations have been identified in several patients with MS-like phenotypes. Paper-1846254.
PURPOSE: To offer clinical evidence that deficiency of vitamin B12 may adversely affect the neuronal function of patients who also have the 14,484 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy ( LHON). Paper-150449.
Of other variants, the homoplasmic G11696A mutation in the ND4 gene is of special interest as it was implicated to be associated with LHON in a large Dutch family and five Chinese pedigrees with extremely penetrance of visual loss. Paper-13144217.
Therefore, the coexistence of the A1555G mutation and T14484C mutations in this Chinese family indicate that the A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutation. Paper-13231373.
Analysis of the complete mitochondrial genome in the proband revealed the presence of the LHON primary mutation G11778A in the NADH dehydrogenase 4 ( ND4) gene and a deafness- associated mutation A1555G in the 12S rRNA gene. Paper-12958259.
It is shown here, however, that neither this biochemical lesion nor the optic neuropathy are due to the mutation at nucleotide position 11,778 of the mitochondrial ND4 gene first identified by Wallace et al. in several LHON pedigrees. Paper-6656211.
DNA sequence analysis of the gene encoding subunit 6 of the NADH-ubiquinone-oxidoreductase complex ( ND6) in human mitochondria was performed in 25 independent patients who suffer from Lebers hereditary optic neuropathy ( LHON). Paper-1052922.
The same gene was also reported to carry another mutation, at position 14459, associated with the LHON/ dystonia phenotype that induces a reduction of complex I-specific activity and increases the sensitivity to the product decylubiquinol. Paper-1770644.
Multiple cybrid cell lines were constructed, introducing into osteosarcoma-derived rho(0) cells either wild-type or LHON mutant mitochondria carrying each of the 3 common mutations at positions 11778/ ND4, 3460/ ND1, and 14484/ ND6. Paper-10985282.
There are three common primary LHON mutations, occurring at positions 3460, 11778 and 14484 in the human mtDNA (mitochondrial DNA), leading to amino acid substitutions in mitochondrial complex I subunits ND1, ND4 and ND6 respectively. Paper-12658879.
The three most common mutations associated with LHON are ND4/11778, ND1/3460 and ND6/14484 covering 50, 30 and 10% of the families, respectively. mtDNA heteroplasmy is seen most often in sporadic cases reflecting a recent mutational event. Paper-278769.
Using restriction enzyme digestion of mtDNA products amplified by the polymerase chain reaction, the primary LHON mtDNA mutations at positions 3460 bp, 11,778 bp, and 14,484 bp have been excluded in four women with Devic's neuromyelitis optica. Paper-881725.
The existence of occasional cases of LHON patients developing a Multiple Sclerosis (MS)-like illness and the hypothesis that mtDNA variants may be involved in MS suggest the possibility of some common molecular mechanisms linking the two diseases. Paper-12689044.
Classical LHON is mainly associated to mitochondrial DNA (mtDNA) mutations 11778G>A, 3460G>A and 14484T>C, localized in the coding regions for ND4, ND1 and ND6 of the complex I subunits of mitochondrial respiratory chain (MRC), respectively. Paper-13138023.
To evaluate the link between MS and mtDNA variations we investigated a total of thirteen children with MS as well as twenty controls by sequencing eight mitochondrial encoded genes which are known to be the loci for LHON-associated mutations. Paper-1834469.
METHODS: Di-I, a fluorescein dye that allows anterograde labeling of axons, was injected into the brachium of the superior colliculus in post-mortem brain from a patient diagnosed with LHON (3460 mutation) and a normal control brain. Paper-11532159.
We have pursued a comparative proteomics approach on cerebrospinal fluid (CSF) samples from LHON and MS patients, as well as healthy donors by employing 2-DE gel separations coupled to MALDI-TOF- MS and nLC- MS/ MS investigations. Paper-12689044.
RESULTS: Volumes (P =.002) and MTR values (P<.001) of the ONs from patients with MS and incomplete or no recovery were both lower than those of the ONs from patients with MS and recovery, but not different from those of the ONs from patients with LHON. Paper-9193940.
We have investigated the presence of a point mutation at position 11778 in the ND4 gene of mitochondrial DNA in 17 Japanese families with Leber's hereditary optic neuropathy ( LHON), and have identified the mutation in 14 (82.4%) of the 17 families. Paper-98630.
CONCLUSION: Primary LHON mutations are not characteristic for MS with optic involvement, but secondary LHON mutations and two substitutions abolishing a HpaII site in the mt tRNA(Thr) gene may contribute to the aetiology of MS with optic involvement. Paper-870173.
Hypothetically the mitochondrial mutation underlying LHON may contribute to presumably immunologically mediated involvement of other myelinated axons in the central nervous system in susceptible individuals, producing a disorder indistinguishable from MS. Paper-313812.
The reports to date suggest that MS patients with peripapillary teleangiectasia typical of LHON, with relatives harboring LHON or with early severe bilateral optic neuropathy, particularly if female, should be further evaluated for LHON mutations. Paper-1853543.
The nucleotide G14459A mutation occurs in NADH dehydrogenase subunit 6, and has been suggested previously as the disease-causing mutation in Hispanic, African-American and Caucasian families of Leber's hereditary optic neuropathy ( LHON) and/or dystonia. Paper-11367991.
In addition, five known missense mutations affecting the ND1 (3335 T/C, 3338 T/C), ND2 (5460 G/A), ND3 (10398 A/G), and ND5 (13966 A/G) genes as well as three secondary LHON mutations (4216 T/C, 4917 A/ G, 13708 G/A) were found in the PD group. Paper-2164304.
To further study this association of LHON and MS in the Korean population, we tested 20 MS patients for the presence of mtDNA mutations at nucleotide (nt) 11778 in all 20 patients, and at nt 14484, nt 3460 and nt 15257 in 15, 12 and 12 patients, respectively. Paper-8869639.
Of 17 family members, the eight members who had the 11778 LHON mutation were all from branch 'a'. Three of these eight members had FSHD with a 17-27-kb deletion of a tandem repeat in the 4q35 subtelomere, and two had been clinically diagnosed as FSHD. Paper-11237967.
Optic neuritis frequently occurs in multiple sclerosis ( MS), and shares several similarities with the optic neuritis of Leber's hereditary optic neuropathy ( LHON), which is mainly due to maternally transmitted mitochondrial DNA (mtDNA) mutations. Paper-1878481.
To clarify the bioenergetic relevance of mtDNA mutations in Leber's hereditary optic neuropathy ( LHON), we investigated affected individuals and healthy carriers from six Italian LHON families harboring the 11778/ ND4 and the 3460/ ND1 mtDNA mutations. Paper-1051815.
As multiple sclerosis ( MS) has long been known to be associated with Leber, hereditary optic neuropathy ( LHON), a disease caused by mitochondrial (mtDNA) mutations, in this study we assessed possible involvement of mtDNA point mutation in MS patients. Paper-13738974.
The occurrence of a multiple sclerosis (MS)-like phenotype in subjects carrying mitochondrial DNA (mtDNA) mutations associated with Leber hereditary optic neuropathy ( LHON) has suggested that mitochondrial genes may contribute to susceptibility to MS. Paper-1183809.
Poracoccus denitrificans cells expressing substitutions homologous to these MELAS- and LHON-causing mutations had lower growth yield than wild type cells and lower efficiency of proton pumping by CO (e.g. lower H+/e ratio and lower deltapsi), but had similar CO activity. Paper-1560892.
In spite of reduced SOD activities in all LHON cybrids, and of low GPx and GR activities in cells with the most severe 3460/ ND1 and 11778/ ND4 mutations, GSH and GSSG content were not significantly modified in LHON cybrids cultured in glucose medium. Paper-10749313.
Mutations usually associated with either mitochondrial encephalopathy, lactic acidosis and stroke-like episode, myoclonic epilepsy with ragged red fibres, or those strongly linked to Leber's hereditary optic neuropathy ( LHON) were not detected in patients or controls. Paper-1440611.
METHODS: Assays for the activities of NADH-cytochrome c reductase (complex I+complex III), succinate-cytochrome c reductase (complex II+complex III), and cytochrome c oxidase ( complex IV) on blood cell mitochondria of seven LHON patients and 15 normal controls. Paper-579199.
From the available sequence data, it is inferred that the Vic2 and Tas2 LHON families are phylogenetically related to each other and to a cluster of LHON families in which mutations in the mitochondrial cytochrome b gene have been hypothesized to play a primary etiological role. Paper-7205335.
In addition to these mutations, 18 of the 32 probands were tested for the Complex IV, COX III gene, LHON associated 9804 and 9438 mutations and secondary LHON mutations at nucleotide positions 3394, 4160, 4216, 4917, 5244, 7444, 7706, 13708, 13730 and 15812. Paper-8778189.
Different possible explanations for the previously established association between haplogroup J and LHON 11778/ ND4 and 14484/ ND6 pathogenic mutations are discussed, including the unconventional proposal that mtDNA haplogroup J may exert a protective rather than detrimental effect. Paper-9229645.
We used phosphorus magnetic resonance spectroscopy to establish whether two of these 'secondary' LHON mtDNA mutations, 4216/ ND1 and 13708/ ND5 (haplogroup J), further affect in vivo mitochondrial oxidative metabolism in subjects with the 'primary' 11778/ ND4 mtDNA mutation. Paper-8431509.
The results indicated that NuoJ-M64V, the equivalent of the common LHON mutation in ND6, had a mild effect on E. coli NDH-1 activity, while nearby mutations, particularly NuoJ-Y59F, NuoJ-V65G and NuoJ-M72V, severely impaired the DB reduction rate and cell growth on malate. Paper-12658879.
RESULTS: There was no statistically significant difference in NADH-cytochrome c reductase and cytochrome c oxidase activities between LHON patients and controls, but activities of succinate-cytochrome c reductase in LHON patients was significantly elevated compared with normal controls. Paper-579199.
The neurological characteristics of MS associated with LHON are indistinguishable from those of MS in general, but the severe and bilateral visual symptoms and signs justify considering these patients as a clinical subgroup of MS and screening them for LHON mutations. Paper-8578455.
In the present study, 58 unrelated Bulgarian patients with relapsing remitting form of MS and 104 randomly selected healthy individuals were analysed for the presence of 14 mtDNA polymorphisms determining major European haplogroups as well as three (4216, 14 798, 13 708) secondary LHON mutations. Paper-12424510.
METHODS: The presence of the Met98Lys variant was determined in a total of 498 (128 with normal-tension glaucoma (NTG)) patients with OAG, 29 patients who had myocilin-related OAG, 101 patients from ADOA pedigrees, 157 patients from LHON pedigrees and 218 examined OAG age-matched normal controls. Paper-12281957.
Moreover, the recent identification of mutations in the nuclear gene OPA1 as the causative factor in dominant optic atrophy (DOA, Kjer's type) brought the unexpected finding that this gene encodes for a mitochondrial protein, suggesting that DOA and LHON may be linked by similar pathogenesis. Paper-10212058.
A mitochondrial DNA (mtDNA) replacement mutation in LHON patient, G to A transition at nucleotide position (nt) 11778 converting the 340th arginine to histidine in the NADH dehydrogenase subunit 4, was detected as SfaNI site polymorphism (Wallace et al., Science, 242: 1427-1430, 1988). Paper-43938.
A heteroplasmic G-to-A transition at nucleotide pair (np) 14459 within the mitochondrial DNA (mtDNA)-encoded NADH dehydrogenase subunit 6 ( ND6) gene has been identified as the cause of Leber hereditary optic neuropathy ( LHON) and/or pediatric-onset dystonia in three unrelated families. Paper-537327.
Decreased NADH cytochrome c reductase activity in cybrids homoplasmic for the 3460 LHON mtDNA mutation confirmed that the decrease in complex I activity was not specific to the assay used and was not caused by inhibitory effects of ubiquinone analogues used in the NADH CoQ1 reductase assay. Paper-1976480.
Sequence analysis of the complete mitochondrial genomes in the pedigree showed the presence of homoplasmic LHON- associated ND6 T14484C mutation, deafness- associated 12S rRNA A1555 mutation and 47 other variants belonging to Eastern Asian haplogroup H2. Paper-13231373.
PURPOSE: To study the optic nerve head (ONH) morphology of patients with Leber's hereditary optic neuropathy ( LHON) in a large family from Brazil carrying the 11778/ ND4 mutation and in a case series of unrelated Italian families bearing different mitochondrial DNA (mtDNA) pathogenic mutations. Paper-13684354.
One patient from family 1, one from family 2, 41 non-familial NA-AION patients, 97 control subjects and 1,488 patients with suspected Leber hereditary optic neuropathy ( LHON) were tested for the presence of mitochondrial mutation (G4132A) in a previously reported genetic study of family 3. Paper-12945788.
Cells from patients with Lebers hereditary optic neuropathy ( LHON), Kearns-Sayre syndrome ( KSS), myoclonus-epilepsy-lactic acidosis-stroke ( MELAS), the hepatic form of cytochrome oxidase deficiency, and mild PDH complex deficiency survived well in galactose (5 mM)-containing medium. Paper-7201308.
An increasing number of case reports on Leber's hereditary optic neuropathy ( LHON) associated mitochondrial (mt)DNA point mutations in patients with multiple sclerosis ( MS) raised the possibility that mitochondrial determinants may contribute to genetic susceptibility to MS. Paper-1672992.
The frequency of AR homozygotes was greater in affected LHON females than unaffected women or healthy controls, implicating the androgen receptor in the pathophysiology of LHON either directly, or through linkage disequilibrium with a different visual loss susceptibility gene. Paper-13443617.
Pathogenic point mutations in the mitochondrial MTND1 gene have previously been described in association with two distinct clinical phenotypes -- Leber hereditary optic neuropathy ( LHON) and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes ( MELAS). Paper-11189593.
To ascertain the mitochondrial genetic etiology of the LHON in these families, both (a) the the nucleotide sequences of the seven mitochondrial genes encoding subunits of respiratory-chain complex I and (b) the mitochondrial cytochrome b gene were determined for representatives of both families. Paper-7205335.
To evaluate the link between MS and LHON primary point mutations, we investigated 31 non-related Iranian clinically definite MS patients (23 females and 8 males) with optic nerve involvement, as well as 25 patients (16 females and 9 males) without involvement of the optic nerve as controls. Paper-10403686.
Individuals from 33 unrelated Australian families with optic atrophy were screened for 10 different single base alterations in mitochondrial DNA (mtDNA) associated with Leber hereditary optic neuropathy ( LHON) using direct polymerase chain reaction amplification of blood spots collected on Guthrie cards. Paper-7806562.
In contrast, LHON-patients were frequently (10/17, 59%) found in association with another cluster of mtDNA variants including the secondary LHON mutations at nps 4216 and 13708 and further mtDNA polymorphisms in ND genes (haplogroup A), overlapping with haplogroup B only by variants at nps 4216 and 11251. Paper-1194027.
Mitochondrial DNA mutations at nucleotide position (np) 3460 in the ND 1 gene, np 11778 in the ND 4 gene, and np 14484 in the ND 6 gene are commonly considered to be associated with the clinical features of Leber's hereditary optic neuropathy ( LHON) and account for the majority of LHON cases. Paper-774119.
PURPOSE: To determine whether asymptomatic 11778 LHON carriers demonstrated impairments in (1) chromatic red/green (R/G) and blue/yellow (B/Y) contrast sensitivity functions (CSF) and in (2) luminance contrast sensitivity functions in the spatial CSF (SCSF) and temporal CSF ( TCSF) domains. Paper-11516046.
LHON is associated with point mutations in the mitochondrial DNA (mtDNA), which affect subunit genes of complex I. The majority of DOA patients harbor mutations in the nuclear-encoded protein OPA1, which is targeted to mitochondria and participates to cristae organization and mitochondrial network dynamics. Paper-13290474.
METHODS: Monocular chromatic discrimination was studied with the Cambridge Colour Test ( CCT; Cambridge Research Systems, Ltd., Rochester, UK) along the protan, deutan, and tritan cone isolation axes in 46 LHON carriers (15 men) belonging to the same LHON maternal lineage and 74 age-matched control subjects (39 men). Paper-13205246.
The occurrence of multiple sclerosis ( MS) in subjects clustering to a particular mitochondrial DNA (mtDNA) haplogroup/ haplotype or carrying mtDNA mutations associated with Leber's hereditary optic neuropathy ( LHON) has suggested that mitochondrial genome may contribute to susceptibility to MS. Paper-12424510.
Based on an extensive literature search and on a clinical analysis of 55 LHON pedigrees (103 patients) and 40 patients with definite MS, this study concludes that the association of LHON and MS is more than a coincidence, and that carrying a primary LHON mutation is a risk factor for developing MS. Paper-8578455.
We employed a microphotometric approach to examine whether a defect in the mitochondrial respiratory complex I expected in Leber hereditary optic neuropathy ( LHON) as the consequence of a mtDNA (11778G>A) mutation in the ND4 gene coding for a subunit of the respiratory complex I can be detected at the single-cell level. Paper-8641144.
Because Wolfram (or DIDMOAD) syndrome is supposed to be a mitochondrial (mt)-mediated disease, we investigated a group of eight DIDMOAD patients with respect to point mutations of the mtDNA thus far described as being associated with defined mitochondrial disorders such as MELAS, MERRF, and LHON. Paper-927728.
OBJECTIVES: Mitochondrial cytopathies such as Leber's hereditary optic neuropathy ( LHON), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes ( MELAS), and myoclonus epilepsy with red ragged fibers (MERRF) are associated with distinct mtDNA point mutations (for review see 1). Paper-499713.
With the present study 74 unrelated Italian patients (53 females and 21 males; mean age 37.9, SD 9.9, range 20-59) affected by MS with early and prominent optic nerve involvement and 99 normal control subjects were analysed for the presence of primary (nps 11778, 3460, 14484) and an alleged secondary one (np 15257) LHON mutations. Paper-1183809.
Although the mitochondrial genome of mammals, including humans, appears to be quite stable in comparison to other species, mtDNA instabilities of the type described in fungi were observed in mitochondria of patients with different mitochondrial degenerative disorders ( CPEO, KSS, Pearson syndrome, LHON, MERRF, MELAS). Paper-7262478.
All 4216-positive LHON patients (10 patients) were concentrated in a haplogroup defined by additional exchanges at nps 10,398, 12,612, and 13,708 (haplogroup A), while the bulk of 4216-positive DIDMOAD patients (5 patients) were found in a distinct haplogroup consisting of nucleotide exchanges at nps 4917, 10,463, 13,368, 14,233, and 15,928. Paper-927728.
To preliminarily examine whether mitochondrial heteroplasmy or synergism of multiple mitochondrial (mt) DNA mutations are related to the symptoms manifested in Japanese pedigrees with Leber's hereditary optic neuropathy ( LHON), 90 percent of which have an mtDNA mutation at position 11778 in the NADH dehydrogenase subunit 4 ( ND4) gene. Paper-85001.
In patients with LHON or LHON- MS, an assessment was made of (a) the severity of optic nerve damage, using MRI and magnetisation transfer imaging (MTI), and (b) the presence and extent of macroscopic and microscopic pathology in the brain and cervical cord, using MRI and MT ratio ( MTR) and mean diffusivity (D) histogram analysis. Paper-8767175.
Both disorders are the result of mitochondrial dysfunction: LHON from primary mitochondrial DNA (mtDNA) mutations affecting the respiratory chain complexes; and the majority of DOA families have mutations in the OPA1 gene, which codes for an inner mitochondrial membrane protein critical for mtDNA maintenance and oxidative phosphorylation. Paper-13641613.
This paper discusses the pros and cons of introducing PGD for mitochondrial DNA (mtDNA) disorders such as NARP (Neurogenic muscle weakness, Ataxia, Retinis Pigmentosa)/Leigh, MELAS ( Mitochondrial myopathy, Encephalopathy, Lactic acidosis, and Stroke-like episodes), private mtDNA mutations and LHON ( Leber Hereditary Optic Neuropathy). Paper-13044429.
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