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Our report expands the genetic heterogeneity of PEO. Paper-15592464.
Progressive external ophthalmoplegia and myositis. Paper-7655137.
Polyneuropathy in progressive external ophthalmoplegia. Paper-4208272.
Congenital myopathy with progressive external ophthalmoplegia. Paper-6205928.
Serum lactate levels at rest are good predictors of fatigue in PEO. Paper-537336.
The same bands were translocated in cell line PEO1 (hypertriploid). Paper-7998871.
A novel variation in the Twinkle linker region causing late-onset dementia. Paper-14120197.
He had a cerebellar ataxia with PEO and multiple mtDNA deletions in muscle. Paper-8423410.
Mitochondrial myopathy with chronic progressive external ophthalmoplegia. Paper-9520268.
Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia. Paper-1295653.
A woman with PEO and mental retardation had a heterozygous Gly1076Val mutation. Paper-10039469.
Familial progressive external ophthalmoplegia with abnormal muscle mitochondria. Paper-2759359.
Fluorescence study of aggregation in water of PEO-grafted polydiphenylamine. Paper-11431608.
Progressive external ophthalmoplegia: a paraneoplastic manifestation of lymphoma. Paper-9270669.
Ocular myopathy ( progressive external ophthalmoplegia) with neuropathic complications. Paper-2691596.
Phenotype and clinical course in a family with a new de novo Twinkle gene mutation. Paper-14411483.
Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes. Paper-825504.
The condition known as Ocular Myopathy or Progressive External Ophthalmoplegia is reviewed. Paper-2691596.
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations. Paper-11260188.
Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegia. Paper-11803453.
This investigation confirmed the high frequency of mtDNA deletions or point mutations in PEO. Paper-430264.
Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy. Paper-11288873.
Retinal degeneration without pigment alterations in progressive external ophthalmoplegia. Paper-2691837.
PEO1 sequencing disclosed two novel mutations in exons 1 and 4 of the gene, respectively. Paper-16147251.
A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia. Paper-1690229.
Progressive external ophthalmoplegia with hereditary sensory neuropathy: a rare association. Paper-11125776.
The results show that a dependence on molecular weight is found below 1500 g mol-1 for linear PEO. Paper-7992337.
The most common features are PEO, neuropathy, myopathy, ataxia, epilepsy and hepatopathy. Paper-12169768.
Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. Paper-16069443.
Chronic progressive external ophthalmoplegia is now considered as one type of mitochondrial diseases. Paper-1342924.
Multimodal evoked potentials in progressive external ophthalmoplegia with mitochondrial myopathy. Paper-7010321.
PEO patients with this mutation can further develop parkinsonism or premature ovarian failure. Paper-12531326.
Chronic progressive external ophthalmoplegia. I. A quantitative histochemical study of skeletal muscles. Paper-5995669.
Structure-Function Defects of the TWINKLE Linker Region in Progressive External Ophthalmoplegia. Paper-12764258.
A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples. Paper-1052757.
The peculiar clinical presentation expands the variable phenotype observed in adPEO and Twinkle gene mutations. Paper-14086616.
Infantile onset spinocerebellar ataxia ( IOSCA) is a progressive neurological disorder of unknown etiology. Paper-927738.
Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia. Paper-1254327.
Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. Paper-6181290.
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Paper-10039469.
Almost all patients with KSS and about half with PEO harbor large deletions in their mitochondrial genomes. Paper-6313317.
Morphometric and biochemical study of muscle mitochondria in adult chronic progressive external ophthalmoplegia. Paper-6099520.
Moreover, it reveals that the PEO blocks play a more important role in the micellar crystallization process. Paper-13545161.
Biological markers of oxidative stress in mitochondrial myopathies with progressive external ophthalmoplegia. Paper-7173575.
A patient with chronic progressive external ophthalmoplegia contracted cutaneous leishmaniasis of the upper eyelid. Paper-7165910.
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Paper-11510337.
Onset occurs before age 20, and is manifest as chronic progressive external ophthalmoplegia and retinal degeneration. Paper-11122475.
Peripheral neuropathy in the course of PEO is regarded as a further although rare aspect of a multisystem disease. Paper-4208272.
Subsequently, he developed progressive external ophthalmoplegia, ptosis, retinopathy, heart block, and endocrinopathy. Paper-6748036.
A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia. Paper-10791301.
The mutation was identified in three siblings with PEO, one of them additionally suffered from schizoaffective disorder. Paper-11202644.
RESULTS: A maximum two-point LOD score of 2.8 at theta=0.00 was obtained with marker D10S192 in close proximity to PEO1. Paper-14335827.
Muscle fatigue, lactate, and pyruvate in mitochondrial myopathy with progressive external ophthalmoplegia. Paper-537336.
We also investigated if the p.R303W mutation in PEO1 gene affected the relative copy number of mitochondrial DNA genomes. Paper-13835353.
Autosomal dominant and/or recessive progressive external ophthalmoplegia (ad/arPEO) is associated with mtDNA mutagenesis. Paper-10211281.
Coding exons and flanking intron regions of polymerase gamma (POLG) and DNA helicase ( Twinkle) genes were sequenced. Paper-15685974.
The copolymers contained PEO blocks with molecular weights ranging between 5600 and 23,800 and with 16-47 wt% of PLA. Paper-13135844.
A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia. Paper-15592464.
Isothermal crystallization of a high molecular weight PEO (Mw=4,000,000) has been investigated using photoDSC. Paper-13208244.
It is found that supercoiling has only a limited influence on the critical amount of PEO needed to condense plasmid DNA. Paper-13478535.
The modeling of the Twinkle protein showed that T457 is located in the interface between two monomers of the hexameric enzyme. Paper-13437981.
Such partial defects are consistent with the delayed presentation of mitochondrial diseases associated with mutation of C10orf2. Paper-15398223.
Four of the cell lines, PEO1, PEO4, PEO6, and PEO16, have been xenografted into immune-deprived mice and found to be tumorigenic. Paper-5912638.
In 10 mM NaCl, an adsorbed PEO layer is required to prevent flocculation, and particles are stabilized by steric repulsions. Paper-11526675.
MRI in the 2 PEO patients showed lesions bilaterally in the basal ganglia in one, and in the internal capsules in the other. Paper-304865.
In this study we have investigated whether mtDNA point mutations are involved, directly or indirectly, in the pathogenesis of PEO. Paper-11260188.
Chronic asymmetric progressive external ophthalmoplegia with right facial weakness: a unique presentation of mitochondrial myopathy. Paper-9494735.
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss. Paper-13428020.
These would include individuals with chronic progressive external ophthalmoplegia, third nerve paralysis, and myasthenia gravis. Paper-3911232.
Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. Paper-9161522.
Five patients with PEO had mutations: 2 were compound heterozygotes, 1 was homozygous, and another showed a mutation in a single allele. Paper-10814703.
A computer-aided investigation into the role of hydrogen bonding in the binding conformation of the endo-ethenotetrahydrooripavine, PEO. Paper-7152002.
Autosomal dominant progressive external ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. Paper-13176746.
In this case, a novel heterozygous missense mutation F485L was identified in the nuclear encoded putative mitochondrial helicase Twinkle. Paper-10347629.
LAA in the frontal lobes and occipital lobes may be SPECT findings characteristic of Leigh syndrome and PEO, respectively. Paper-304865.
Here we describe clinical, histological and molecular features of two patients presenting with mitochondrial myopathy associated with PEO. Paper-16147251.
To our knowledge, a syndrome mimicking progressive external ophthalmoplegia had never been reported preceding the diagnosis of a lymphoma. Paper-9270669.
The interpenetrating PEO chains belonging to different micelles causes the depletion of the solvent in the outer layer of micelles. Paper-10872536.
Strong linkage disequilibrium observed between IOSCA and the linked markers was utilized to define accurately the critical chromosomal region. Paper-209235.
We have studied ragged-red fibres in the muscle biopsies of 3 adults; one with polymyositis and two with progressive external ophthalmoplegia. Paper-2963016.
When the alpha-CD/hydrophobe molar ratio exceeded 5.0, the viscosity was close to that of a PEO solution of similar molecular weight. Paper-12402314.
Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia. Paper-4994028.
Infantile-onset spinocerebellar ataxia ( IOSCA) is an autosomal recessively inherited progressive neurological disorder of unknown etiology. Paper-209235.
The number of reported cases with mainly myopathic symptoms and possible nervous system involvement related to Twinkle gene mutation is limited. Paper-15685974.
Chronic progressive external ophthalmoplegia is a mitochondrial disease associated with deletions of mtDNA or by point mutation of tRNA genes. Paper-8663600.
A case of progressive external ophthalmoplegia (Kiloh-Nevin type) with abnormal mitochondria. Clinical, histochemical and ultrastructural findings. Paper-2759360.
We conclude that this novel mtDNA deletion causing myopathy and PEO is associated with severe muscle and platelet cellular energetic abnormalities. Paper-16171721.
A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation. Paper-8325719.
Chronic progressive external ophthalmoplegia ( CPEO) is a rare clinical syndrome characterized by slowly progressive paralysis of extraocular muscles. Paper-6393555.
Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study. Paper-4246037.
SUBJECTS: Members of a 3-generation family followed up in a neuromuscular disease center for dominantly inherited progressive external ophthalmoplegia. Paper-13304294.
This novel behavior is attributed to hydrogen-bonding complexation between the undissociated carboxylic acids and the PEO, forming very compact layers. Paper-13636467.
Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions. Paper-7195286.
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Paper-8848226.
It was concluded that the inflammatory myopathy, myositis clinically localized at the ocular muscles, is an important and distinct disorder in PEO. Paper-7655137.
False aneurysm of the cavernous carotid artery and progressive external ophthalmoplegia after transsphenoidal hypophysectomy. Case report. Paper-3258826.
We report here a novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases. Paper-8848226.
Patients were adults with PEO and symptoms including myopathy, neuropathy, dysarthria or dysphagia, sensory ataxia, and parkinsonism. Paper-13747191.
Four autosomal dominant mutations that cause PEO encode the amino acid substitutions G923D, R943H, Y955C and A957S in the polymerase domain of pol gamma. Paper-10517711.
Four unrelated patients presented with a severe sensory ataxic neuropathy in association with dysarthria and chronic progressive external ophthalmoplegia. Paper-1118975.
In contrast with typical KSS, the clinical picture of this patient did not include either palpebral ptosis or PEO and was dominated by an ataxic syndrome. Paper-12023470.
The case of a 66-year-old woman with progressive external ophthalmoplegia and involvement of the proximal muscles of the upper and lower limbs is described. Paper-3927332.
Two homozygous POLG1 mutations, within the exonuclease domain, were able to induce an increased mutational burden also in fibroblasts from patients with PEO. Paper-10105671.
The adhesion of NIH-3T3 fibroblast cells was shown to be significantly affected by the surface coverage of PEO nano-domains formed by copolymer self-assembly. Paper-13644029.
A 43-year-old woman with progressive external ophthalmoplegia developed a bifascicular block and dilatation of the right ventricle during 4 years of follow-up. Paper-6667973.
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status. Paper-585655.
Multimodal evoked potentials were studied in 13 patients affected by progressive external ophthalmoplegia with histologically proven mitochondrial myopathy. Paper-7010321.
CONCLUSIONS: Chronic progressive external ophthalmoplegia may have clinical characteristics similar to those of myasthenia gravis or thyroid ophthalmopathy. Paper-983061.
Near-infrared spectroscopy in chronic progressive external ophthalmoplegia: adipose tissue thickness confounds decreased muscle oxygen consumption. Paper-9372160.
A 58-year-old white man with chronic progressive external ophthalmoplegia developed proptosis and an improvement in his ptosis from a mass in the superior orbit. Paper-5156598.
RESULTS: We identified a heterozygous G1121A mutation (R374Q) in exon 1 of Twinkle that segregated with the disease phenotype in all affected family members. Paper-13304294.
Third degree atrioventricular block, chronic progressive external ophthalmoplegia and pigmentary degeneration of retina. Case report and survey of the literature. Paper-3172424.
This allele is expressed at a reduced level, causing the preponderance of messenger RNAs encoding Y508C polypeptides and thus leads to the IOSCA disease phenotype. Paper-11510337.
Only three clinical features were significantly associated with an mtDNA mutation: progressive external ophthalmoplegia, myopathy, and pigmentary retinopathy. Paper-1584318.
Twitch response of striated muscle in patients with progressive external ophthalmoplegia, mitochondrial myopathy and focal cytochrome c-oxidase deficiency. Paper-384407.
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. Paper-15398223.
Three patients with mitochondrial myopathies and progressive external ophthalmoplegia had repeated episodes of respiratory failure requiring assisted ventilation. Paper-6596968.
Mutations in the PEO1 gene, which encodes TWINKLE, cause autosomal dominant progressive external ophthalmoplegia (AdPEO), a disorder associated with deletions in mtDNA. Paper-12764258.
The molar ratio of 8-OH-dG/ deoxyguanosine in skeletal muscle from PEO or KSS patients was significantly higher than the control value. Paper-773949.
The apparent autosomal-recessive inheritance and the association with cardiomyopathy distinguish this syndrome from autosomal-dominant PEO with multiple mtDNA deletions. Paper-540540.
Laser-excited fluorescence studies of mitochondrial function in saponin-skinned skeletal muscle fibers of patients with chronic progressive external ophthalmoplegia. Paper-459367.
This may be a possible association in the same family of two diseases: progressive external ophthalmoplegia and dominant optic atrophy with progressive hearing loss. Paper-4946341.
The decrease in the particle size (described by hydrodynamic diameter: Dh) upon increasing temperature was observed because of the diminishing hydrophilicity of PEO. Paper-12419617.
This behavior is attributed to interactions between divalent cations and oxygen in PEO backbones close to the micelle core, which may reinforce intermicellar bridges. Paper-11438024.
In pure water, kinetically frozen micelles with a core composed of a soft PI inner part and a hard P2VP outer shell and protected by a neutral PEO corona were formed. Paper-10951623.
We describe a 16-year-old girl with delayed motor milestones and onset of progressive external ophthalmoplegia at age 3 years and proximal muscle weakness at age 10 years. Paper-6205928.
Inflammatory pseudotumor of the levator muscle is extremely unusual and has not been reported previously in patients with chronic progressive external ophthalmoplegia. Paper-5156598.
We report a 57-year-old man with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions who developed acute rhabdomyolysis provoked by alcohol. Paper-1295653.
A range of PEO solutions with different viscosities and molecular weights was used and the deformation of each drop during impact was observed using a high speed camera. Paper-13571905.
Haplotype analysis combined with genealogical data provided evidence that all the IOSCA cases in Finland originate from a single 30- to 40-generation-old founder mutation. Paper-927738.
Progressive external ophthalmoplegia and parkinsonism are genetically heterogenous disorders, and part of this syndrome may be caused by mutations in other, unknown genes. Paper-16069443.
The preoperative diagnoses included severe congenital ptosis (83%), blepharophimosis (10%), third nerve palsy (4%), and chronic progressive external ophthalmoplegia (3%). Paper-1478981.
The ragged-red or cytochrome c oxidase-negative fibers, which are a hallmark of mitochondrial myopathy with PEO, were not increased in comparison with age-matched control muscles. Paper-7655137.
Multiple deletions of mitochondrial DNA have been detected by Southern blotting in the skeletal muscle of a 42-year-old woman with chronic progressive external ophthalmoplegia. Paper-390873.
CONCLUSION: This finding broadens the clinical spectrum of Twinkle gene mutations and further implicates loss of mitochondrial DNA integrity in the pathogenesis of Parkinson disease. Paper-13304294.
The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine. Paper-12531326.
The emissions of the PDPA-g-PEOs occurred in the range from 360 to 700 nm and were dependent on their concentrations, PEO chain length, extent of oxidation, pH, and temperature. Paper-11431608.
CASE REPORT: A 63-year-old man developed progressive external ophthalmoplegia, without any other neurological symptoms, as the initial manifestation of a follicular lymphoma grade III. Paper-9270669.
CONCLUSION: Both autosomal dominant progressive external ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase gamma. Paper-13176746.
We present a method for patterning neural stem cells based on pre-patterning polypeptides on a cell-repellent surface (poly(ethylene) oxide-like, PEO-like, plasma-deposited films). Paper-13047677.
This is consistent with the view that PEO is a clinical syndrome, i.e. the expression of various defects affecting primarily or secondarily the energy metabolism of the muscular tissue. Paper-4393307.
The dominant factor on addition of salt was generally the reduced solvency of PEO, which resulted in a further increase in the layer thickness but in some cases caused flocculation. Paper-12873661.
Of the remaining cases, four had an encephalomyopathy with deafness, ataxia and dementia, two had syndromes with progressive external ophthalmoplegia and two had limb weakness alone. Paper-278754.
We have previously described patients with infantile onset spinocerebellar ataxia (MIM271245) caused either by homozygous (Y508C) or compound heterozygous (Y508C and A318T) Twinkle mutations. Paper-13804725.
CONCLUSIONS: Our data suggest a shared clinical phenotype with variable mild multiorgan involvement, and that the contribution of PEO1 mutations as a cause of adPEO may well be underestimated. Paper-15107562.
It should be particularly considered in ataxia patients with PEO, psychiatric comorbidities, and/or sensory neuropathy, even if characteristic mitochondrial extra-CNS features are absent. Paper-15503714.
These observations demonstrate that Twinkle variations in the linker domain alter cerebral function and further implicate disrupted mitochondrial DNA integrity in the pathogenesis of dementia. Paper-14120197.
We report here a new phenotype in two siblings with compound heterozygous Twinkle mutations (A318T and Y508C), characterized by severe early onset encephalopathy and signs of liver involvement. Paper-12531131.
Autosomal dominant progressive external ophthalmoplegia is a common neurological presentation of mitochondrial disease and is characterised by multiple deletions of mitochondrial DNA in muscle. Paper-9965056.
The disease is characterised by progressive external ophthalmoplegia, clear-cut macular degeneration, cerebellar dysarthria, spastic paraplegia and finally facial and bulbar weakness. Paper-6001695.
This second patient with G12315A and progressive external ophthalmoplegia confirms the pathogenicity of the mutation and helps to define the correlation between genotype and phenotype. Paper-9277934.
A case of progressive external ophthalmoplegia is described, in which the onset of the illness was at 28--30 years, with fatigability and muscular pains in the lower limbs as presenting symptoms. Paper-2759360.
A 56-year-old black man had annular visual field defects and retinal electrophysiologic dysfunction with chronic progressive external ophthalmoplegia and no pigmentary abnormalities in the fundus. Paper-2691837.
Twinkle is a new mitochondrial 5'-3' DNA helicase, defects of which we have previously shown to underlie a mitochondrial disease, progressive external ophthalmoplegia with multiple mtDNA deletions. Paper-10608905.
We present a new French family of whom two members displayed myopathy and neuropathy associated with PEO, and we perform a clinical review in light of other observations reported in the literature. Paper-15685974.
CONCLUSIONS: The ophthalmologist, when confronted with a progressive external ophthalmoplegia, should consider a neurological paraneoplastic syndrome associated with a tumor as a possible diagnosis. Paper-9270669.
None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive external ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Paper-13176746.
Additionally, we utilized cultured human cells and observed that reduced expression of Twinkle by RNA interference mediated a rapid drop in mtDNA copy number, further supporting the in vivo results. Paper-10608905.
A PEO phenotype forces one to look comprehensively for other multisystemic mitochondrial features (e.g., exercise induced weakness, encephalopathy, polyneuropathy, diabetes, heart disease). Paper-12031727.
0. The low shear viscosity increased with increasing temperature at molar ratio of 1.0, and this was attributed to the competitive complexation of the alpha-CD/hydrophobe and the alpha-CD/ PEO chain. Paper-12402314.
The combination of autosomal-recessive PEO, cardiomyopathy, and multiple mtDNA deletions appears to be another disease due to a defect of communication between the nuclear and mitochondrial genomes. Paper-540540.
As there have been few reports of the obstetrical care of affected patients, we wish to document two pregnancies in a woman with a Chronic Progressive External Ophthalmoplegia (Kearns-Sayre-like syndrome). Paper-1122868.
This group of patients predominantly (16 out of 17) exhibit multisystem disorder and/or Pearson syndrome, while older patients had predominantly neuromuscular manifestations including KSS, PEO, and MM. Paper-15572027.
The versatility of this method is demonstrated by its applicability to different metals with covalently attached amphiphilic arms with various chemical compositions (PS-PEO and PB- PEO) and molecular weights. Paper-12325546.
By analyzing extended disease haplotypes observed today, the IOSCA locus can now be restricted to a region between two adjacent microsatellites, D10S192 and D10S1265, with no genetic intermarker distance. Paper-927738.
On the other hand in 20% of all cases with mitochondrial proliferations including 19 cases of diffuse mitochondrial myopathy and 3 of progressive external ophthalmoplegia no activation of the enzyme was found. Paper-5411624.
Although the pathological features of this congenital myopathy are quite nonspecific, the case further illustrates the pathogenetic heterogeneity of the progressive external ophthalmoplegia phenotype. Paper-6205928.
Innervational deficiencies include lateral rectus weakness or paralysis, myasthenia gravis, progressive external ophthalmoplegia nd Duane's syndrome with aberrant innervation to the lateral rectus muscle. Paper-2665818.
Immunohistochemical staining for both Mn-SOD and Cu,Zn-SOD showed pronounced staining in the subsarcolemmal and intermyofibrillar regions of cytochrome-oxidase-negative ragged red fibers of KSS or PEO muscles. Paper-773949.
CONCLUSIONS: A homozygous POLG1 mutation might explain PEO with mitochondrial abnormalities in skeletal muscle in our propositus, and it might have aggravated his axonal and hypomyelinating sensory-motor neuropathy. Paper-12150022.
Thus, evoked potentials represent an useful tool for the detection of subclinical central nervous system involvement in patients affected by progressive external ophthalmoplegia with mitochondrial myopathy. Paper-7010321.
PhotoDSC has been applied to follow the global kinetics of chain scissions resulting from the UV light irradiation or from the thermal degradation of a high molecular weight PEO (4 x 10(6) g x mol(-1)). Paper-12155700.
Among the acquired cause, ptosis due to trauma was the commonest 32%, followed by third cranial nerve palsy 25.5%, myasthenia gravis 17%, aponeurotic 10.7%, chronic progressive external ophthalmoplegia 8.5% etc. Paper-12366199.
Neurophysiological studies, peroneal muscle and sural nerve biopsies, and molecular studies of mtDNA maintenance genes (ANT1, Twinkle, POLG1, TP) and non dominant CMT-related genes (GDAP1, LMNA, GJB1) were performed. Paper-12150022.
We describe a second patient carrying the 5698G-->A transition in the mitochondrial DNA gene encoding tRNA(Asn), who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. Paper-10849726.
OBJECTIVE: To define the molecular basis of the autosomal dominant progressive external ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Paper-13176746.
We determined the nucleotide sequences of junctional regions associated with large deletions of mitochondrial DNA found in four unrelated individuals with a phenotype of chronic progressive external ophthalmoplegia. Paper-6342026.
The viscosity/temperature relationship of the alpha-CD/HEUR system (for HEUR with 70% of the PEO chains capped at both ends) did not obey the Arrhenius relationship for alpha-CD/hydrophobe molar ratio in the range 0.8-5. Paper-12402314.
For acidic conditions ( pH 3), the PEO-silane monolayers exhibit good polyelectrolyte repellency provided the polyelectrolytes bear no moieties that are able to form hydrogen bonds with the ether groups of the PEO chains. Paper-13420491.
It reports on four patients with progressive myoclonus epilepsy--three with Unverricht-Lündborg disease (EPM1) and one with progressive external ophthalmoplegia (PEO)--all of whom were taking more than one antiepileptic drug. Paper-8913787.
The study showed that contrast sensitivity function detects visual function abnormalities noninvasively in a number of patients with mitochondrial progressive external ophthalmoplegia with unaffected Snellen visual acuity. Paper-379732.
Various patterns of approximately 1nm thick cell adhesive poly-l-lysine ( PLL) have been created on a cell-repellent PEO-like matrix by microcontact printing using different array configurations and printing conditions. Paper-13047677.
Eleven patients suffering from chronic progressive external ophthalmoplegia ( CPEO) were investigated by means of electroretinograms (ERG) and visually evoked cortical potentials (VECP) to flash and checkerboard-reversal stimuli. Paper-4951259.
The effects of a poly(acrylic acid) (PAA)-poly(ethylene) ( PEO) comb polymer dispersant on the rheological properties and inter-particle forces in aqueous silica suspensions have been studied under varying pH conditions. Paper-11435480.
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study. Paper-1668155.
The patient presented all the characteristic features of the disease which consist of progressive cerebellar ataxia, pyramidal signs, progressive external ophthalmoplegia with variable degrees of extrapyramidal and peripheral signs. Paper-4091306.
Contrast sensitivity function with stationary and temporally modulated (8 Hz) black and white vertical sinusoidal gratings was investigated in 11 patients with biopsy-confirmed mitochondrial progressive external ophthalmoplegia. Paper-379732.
Clinically, SCA8 patients show similar features to those with the other SCAs, including limb and truncal ataxia, ataxic dysarthria and horizontal nystagmus, all of which are signs of dysfunction of the cerebellar system. Paper-12998609.
To understand the biochemical consequences of C10orf2 mutations, we overproduced wild type and 20 mutant forms of human mtDNA helicase in Escherichia coli and developed novel schemes to purify the recombinant enzymes to near homogeneity. Paper-15398223.
This study is concerned with the clinical, electrophysiological, and pathological observations in a 37-year-old man with progressive external ophthalmoplegia and a ragged-red fiber myopathy associated with severe sensorimotor neuropathy. Paper-3526835.
Different proportions of intact mitochondrial DNA and species deleted from nucleotide 8708 to 13,722 were found in skeletal muscle, blood, and urinary epithelial cells from a patient with chronic progressive external ophthalmoplegia. Paper-6276174.
Twinkle is a mitochondrial replicative helicase, the mutations of which have been associated with autosomal dominant progressive external ophthalmoplegia (adPEO), and recessively inherited infantile onset spinocerebellar ataxia ( IOSCA). Paper-12531131.
This ataxia, identified so far only in the genetically isolated Finnish population, does not share gene locus with any of the previously identified hereditary ataxias, and a random mapping approach was adopted to assign the IOSCA locus. Paper-209235.
The patient became affected at the age of 50 years and presented cerebellar ataxia, progressive external ophthalmoplegia and muscular atrophy, although extrapyramidal signs were never detected throughout the whole course of his disease. Paper-6445405.
In addition, recessive POLG1 mutations are responsible for sensory-atactic neuropathy, dysarthria and ophthalmoplegia ( SANDO), juvenile spino-cerebellar ataxia-epilepsy syndrome (SCAE) and Alpers-Huttenlocher hepatopathic poliodystrophy. Paper-11275556.
Seventeen patients with biopsy-confirmed mitochondrial progressive external ophthalmoplegia underwent electroretinography and visual evoked potential testing to checkerboard-reversal stimuli to investigate subclinical visual dysfunction. Paper-379731.
The identification of a shared chromosomal region in these four patients provided the first evidence that the IOSCA gene locus is on chromosome 10q23.3-q24.1, which was confirmed by conventional linkage analysis in the complete family material. Paper-209235.
The functional behavior of mitochondria in skeletal muscle of patients with chronic progressive external ophthalmoplegia was studied by laser-excited fluorescence measurements of NAD(P)H and flavoproteins in saponin-skinned fibers. Paper-459367.
Finally, in vitro assays showed functional defects in the various Twinkle mutants and broadly agreed with the cell culture phenotypes such as the level of mtDNA depletion and the level of accumulation of replication intermediates. Paper-13553203.
To understand better the origin of protein rejection observed with surface-bound poly(ethylene oxide) (or PEO), we have measured fibrinogen adsorption for a series of linear and branched, low-molecular-weight PEOs bound to solid polystyrene surfaces. Paper-7992337.
The specific saccadic velocity pattern in myasthenia gravis, progressive external ophthalmoplegia, internuclear ophthalmoplegia, and Möbius' syndrome is helpful in differentiating these disorders from other neuroophthalmic motility problems. Paper-4490417.
The third group includes two conditions, an autosomal dominant form of progressive external ophthalmoplegia associated with multiple mtDNA deletions, and a quantitative defect of mtDNA (mtDNA depletion) causing severe infantile myopathy or hepatopathy. Paper-102577.
The extraordinary morphological transformation can be monitored by a fluorescence variation from exciplex to excimer emissions, suggesting the rod-packing transition from antiparallel to interdigitated arrangements as a function of PEO coil length. Paper-13034818.
Probands include Leigh syndrome (LS(3243)), mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS(3243)), progressive external ophthalmoplegia (PEO(3243)), and mitochondrial diabetes mellitus (MDM(3243)). Paper-2205278.
METHODS: We reviewed the clinical, histochemical, and molecular genetics analysis of 33 unreported patients from 26 families together with all previous cases described in the literature to define the clinical phenotype associated with PEO1 mutations. Paper-15107562.
Previously, we have shown that different mutations in this same gene cause autosomal dominant progressive external ophthalmoplegia (adPEO) with multiple mtDNA deletions ( MIM 606075), a neuromuscular disorder sharing a spectrum of symptoms with IOSCA. Paper-11510337.
Qualitative abnormalities of mtDNA are typically represented by pleioplasmic multiple mtDNA deletions, that are detected in stable tissues, including skeletal muscle, of patients affected by Autosomal Dominant Chronic Progressive External Ophthalmoplegia. Paper-278757.
Respiratory insufficiency caused by chest wall weakness was reported in other families with different Twinkle gene mutations, and one might provide exercise intolerance, dysarthria and/or dysphagia as symptoms in favor of the diagnosis. Paper-15685974.
A naturally occurring in vivo model for a defect in this cross-talk of two physically separate genomes is a human disease, an autosomal dominant progressive external ophthalmoplegia, in which multiple deletions of mtDNA accumulate in the patients' tissues. Paper-208468.
The purpose of this report is to alert the ophthalmologist and neurologist to the fact that intermittent ocular symptoms may herald the onset of chronic progressive external ophthalmoplegia and therefore resemble the weakness produced by myasthenia gravis. Paper-3140481.
The decision for surgery in patients with chronic progressive external ophthalmoplegia or myotonic dystrophy should be made cautiously, and the "optical tarsectomy" should be considerable before conservative levator resection or fascia lata suspension. Paper-2388170.
Isothermal crystallization of PEO was performed at 55 degrees C. After ageing at different temperatures ranging from 0 to 90 degrees C and for various periods of time, the kinetics of this crystallization was found following the Avrami theory. Paper-13208244.
We report an original case of simultaneous deletion and duplication of chromosome 4q, confirmed by SNPs-array analysis of DNA, and characterized by a previously unreported association between optic nerve hypoplasia and progressive external ophthalmoplegia. Paper-13721572.
Infantile onset spinocerebellar ataxia ( IOSCA) ( MIM 271245) is a severe autosomal recessively inherited neurodegenerative disorder characterized by progressive atrophy of the cerebellum, brain stem and spinal cord and sensory axonal neuropathy. Paper-11510337.
We describe experiments with poly(1,2-butadiene-b-ethylene oxide) (PB- PEO) diblock copolymers, which form Y-junctions and three-dimensional networks in water at weight fractions of PEOintermediate to those associated with vesicle and wormlike micelle morphologies. Paper-9878375.
We have sequenced all mitochondrial tRNA genes from 9 Japanese patients with chronic progressive external ophthalmoplegia ( CPEO) who had no detectable large mtDNA deletions nor mutations previously reported, and identified 6 different base substitutions in 6 patients. Paper-8228214.
In skeletal muscle biopsies of 8 patients with progressive external ophthalmoplegia combined light and fine structural cytochemical studies of cytochrome-c-oxidase revealed the absence of the enzyme in single fibres with or without accumulation of abnormal mitochondria. Paper-4246037.
In patients with PEO the mean values of lipid peroxides and of the fluorescent adducts of aldehydes with plasma proteins were significantly higher with respect to normal controls, while the mean values of plasma and erythrocyte GSH concentration were significantly lower. Paper-7173575.
Overall, distinct phenotypes for expression of each of the mip1- PEO mutations were observed, including respiration-defective cells with decreased viability, dominant-negative mutant polymerases, elevated levels of mitochondrial and nuclear DNA damage and chromosomal mutations. Paper-11364265.
We have investigated a 15 year old girl with progressive external ophthalmoplegia, including bilateral ptosis and retinal rod and cone cell dysfunction with atypical retinal pigmentation, complicated by cerebellar ataxia, partial cardiac conduction block, and diabetes mellitus. Paper-8082803.
We describe two patients with sporadic amyotrophic lateral sclerosis (ALS), who had developed progressive external ophthalmoplegia of a predominantly supranuclear type while they survived on respirators, and displayed histopathological abnormalities both typical and atypical of ALS. Paper-7367669.
The 5703G>A mutation in the tRNA gene of mitochondrial DNA seems to show a tissue-specific phenotype: early age of clinical presentation, progressive external ophthalmoplegia, fatigability and 'extremely thin appearance'. We report a second patient with the same mutation and phenotype. Paper-10010521.
However, allele sizes within the SCA8 proposed pathogenic range have been reported in patients with ataxia of unknown etiology, in individuals from pedigrees with other SCA or Friedreich's ataxia, and in patients with Alzheimer's disease, schizophrenia or parkinsonism. Paper-12998609.
Screening of the gene encoding Twinkle in individuals with autosomal dominant progressive external ophthalmoplegia (adPEO), associated with multiple mtDNA deletions, identified 11 different coding-region mutations co-segregating with the disorder in 12 adPEO pedigrees of various ethnic origins. Paper-8848226.
This is the first demonstration that rearranged mtDNAs are present in human oocytes, and it provides experimental support for the supposition that pathogenic deletions associated with the ontogeny of sporadic KSS and PEO can be transmitted in the female germ line, from mother to child. Paper-347445.
We show here that recessive mutations of the close functional partner of the polymerase, the Twinkle helicase, can also manifest as early encephalopathy with liver involvement, a phenotype reminiscent of Alpers syndrome, and are a new genetic cause underlying tissue-specific mtDNA depletion. Paper-12531131.
These include disorders of the optic nerve, such as Leber's hereditary optic neuropathy and Kjer-type optic atrophy, and disorders of ocular motility, such as congenital nystagmus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngeal muscular dystrophy. Paper-1320842.
Our findings suggest that overproduction of 8-OH-dG and mitochondrial dysfunction with gene deletions are associated with each other in muscle cells of patients with PEO or KSS, and that free radicals may play an important role in the pathophysiology of mitochondrial encephalomyopathies. Paper-773949.
The diagnosis of a mitochondrial cytopathy was based on the typical clinical symptoms and signs, including chronic progressive external ophthalmoplegia, hearing impairment, cerebellar ataxia, proximal myopathy, and polyneuropathy, and on molecular genetic and histological examinations. Paper-1040196.
We present here the clinical and molecular features of a patient with a clinical presentation characterized initially by PEO with mtDNA multiple deletions lately evolving into a severe neurological syndrome, which included sensory and cerebellar ataxia, peripheral neuropathy, parkinsonism, and depression. Paper-12849999.
Heteroplasmic populations of mtDNA, consisting of normal mtDNA and mtDNA with large deletions, are found in the skeletal muscle and other tissues of certain patients with mitochondrial respiratory chain deficiencies, particularly in those with the CPEO (chronic progressive external ophthalmoplegia) phenotype. Paper-1022002.
Our findings suggest that the 3243 mutation can be associated with mixed clinical features of myoclonic epilepsy with ragged-red fibers (MERRF) and PEO and that a preferential increase in the levels of the mutant mtDNA is not related to graying of hair, and hence to the hypothesized production of premature aging of cells. Paper-539727.
The patient's manifestations included progressive external ophthalmoplegia, bilateral ptosis, muscle weakness, delayed development, and progressive hearing loss with multiple mitochondrial DNA deletions, including an abundant 11-kb novel deletion and reduced specific activities of respiratory complexes I, III, and IV present in skeletal muscle. Paper-9275723.
These synonyms are used for gene C10orf2 (chromosome 10 open reading frame 2): TWINL, Twinkle protein, mitochondrial, TWINKLE, T7-like mitochondrial DNA helicase, T7 gp4-like protein with intramitochondrial nucleoid localization, SCA8, SANDO, Progressive external ophthalmoplegia 1 protein, PEOA3, PEO1, PEO, MTDPS7, IOSCA, FLJ21832, ATXN8.
These accession numbers are used for gene C10orf2: Q6PJP5 (UNIPROT__AC), CAI10924 (NCBI_GENBANK__AC), B2CQL2 (UNIPROT__AC), AAK69558 (NCBI_GENBANK__AC).
C10orf2 is a homologue of PEO1 (progressive external ophthalmoplegia 1) from Gallus gallus.
C10orf2 is a homologue of Peo1 (progressive external ophthalmoplegia 1 (human)) from Mus musculus.
C10orf2 is a homologue of Peo1 (progressive external ophthalmoplegia 1) from Rattus norvegicus.
C10orf2 is a homologue of LOC100330448 (twinkle protein, mitochondrial-like) from Danio rerio.
C10orf2 is a homologue of CG5924 (CG5924 gene product from transcript CG5924-RA) from Drosophila melanogaster.
C10orf2 is a homologue of C28H10orf2 (progressive external ophthalmoplegia 1) from Canis lupus familiaris.
C10orf2 is a homologue of C26H10orf2 (chromosome 10 open reading frame 2 ortholog) from Bos taurus.
C10orf2 is a homologue of C10H10orf2 (progressive external ophthalmoplegia 1) from Pan troglodytes.
C10orf2 is a homologue of AgaP_AGAP010720 (AGAP010720-PA) from Anopheles gambiae str. PEST.
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iHOP - Information Hyperlinked over Proteins .
Concept & Implementation by Robert Hoffmann.