نتایج جستجو برای: polg gene

تعداد نتایج: 1141492  

2017
Yi Shiau Ng Helen Powell Nigel Hoggard Doug M. Turnbull Robert W. Taylor Marios Hadjivassiliou

Mitochondrial disease is phenotypically and genetically heterogeneous with an estimated prevalence of 1 in 4,300. Mutations in the POLG gene, encoding the catalytic subunit of DNA polymerase gamma, are an important cause of mitochondrial disease. The spectrum of clinical manifestations in POLG-related mitochondrial disease is variable, with disease onset ranging from adulthood-onset dominant or...

Journal: :Nepal journal of neuroscience 2022

Polymerase gamma is a mitochondrial DNA polymerase, that responsible for the replication of (mtDNA). It encoded by POLG gene, on chromosome 15q25. Various mutations in this gene have been described, with varied phenotypic manifestations. The triad sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) has reported only small group patients mutations. We report case male, who presen...

Journal: :Archives of neurology 2006
Emiliano González-Vioque Alberto Blázquez Daniel Fernández-Moreira Belén Bornstein Juan Bautista Javier Arpa Carmen Navarro Yolanda Campos Miguel A Fernández-Moreno Rafael Garesse Joaquin Arenas Miguel A Martín

BACKGROUND Both dominant and recessive mutations were reported in the gene encoding the mitochondrial (mt) DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). Phenotypes other than PEO were recently documented in patients with mutations in the POLG gene. OBJECTIVE To screen patients with mitochondrial disease and multiple mtDNA deletions in muscle for muta...

2013
Johanna Uusimaa Vasantha Gowda Anthony McShane Conrad Smith Julie Evans Annie Shrier Manisha Narasimhan Anthony O'Rourke Yusuf Rajabally Tammy Hedderly Frances Cowan Carl Fratter Joanna Poulton

PURPOSE To assess the frequency and clinical features of childhood-onset intractable epilepsy caused by the most common mutations in the POLG gene, which encodes the catalytic subunit of mitochondrial DNA polymerase gamma. METHODS Children presenting with nonsyndromic intractable epilepsy of unknown etiology but without documented liver dysfunction at presentation were eligible for this prosp...

Journal: :Journal of hepatology 2006
Khue V Nguyen Farida S Sharief Sherine S L Chan William C Copeland Robert K Naviaux

BACKGROUND/AIMS Alpers syndrome is a developmental mitochondrial DNA depletion syndrome leading to fatal brain and liver disease in children and young adults. Mutations in the gene for the mitochondrial DNA polymerase (POLG) have recently been shown to cause this disorder. METHODS The POLG locus was sequenced in 15 sequential probands diagnosed with Alpers syndrome. In addition, the POLG muta...

2016
Marie Mongin Cécile Delorme Timothée Lenglet Claude Jardel Catherine Vignal Emmanuel Roze

BACKGROUND Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders. PHENOMENOLOGY SHOWN PAPT due to mutation in POLG, the gene encoding the mitochondrial DNA polymerase. EDUCATIONAL VALUE POLG mutation should be considered in patients with PAPT, particularly when additional clues such as a sensory neuronopathy or an...

Journal: :Cold Spring Harbor perspectives in biology 2013
Jeffrey D Stumpf Russell P Saneto William C Copeland

The inability to replicate mitochondrial genomes (mtDNA) by the mitochondrial DNA polymerase (pol γ) leads to a subset of mitochondrial diseases. Many mutations in POLG, the gene that encodes pol γ, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neu...

Journal: :Archives of neurology 2010
Carla Giordano Floriana Pichiorri Emma L Blakely Elena Perli Maurizia Orlandi Pietro Gallo Robert W Taylor Maurizio Inghilleri Giulia d'Amati

OBJECTIVE To describe an unusual clinical phenotype in an adult harboring 2 compound heterozygous polymerase γ (POLG) mutations. DESIGN Case report. SETTING University-based outpatient neurology clinic and pathology and genetics laboratory. PATIENT A 27-year-old man presenting with isolated distal myopathy of the upper extremities in the absence of sensory disturbances. RESULTS Histoche...

Journal: :Human reproduction 2004
Martin Jensen Henrik Leffers Jørgen H Petersen Anders Nyboe Andersen Niels Jørgensen Elisabeth Carlsen Tina Kold Jensen Niels E Skakkebaek Ewa Rajpert-De Meyts

BACKGROUND Male fertility largely depends on the quality of sperm production, which may be affected by environmental and genetic factors. In this study, we explored a possible role of the polymerase gamma (POLG) gene polymorphism, recently reported to be associated with male infertility in some populations. METHODS The polymorphic CAG repeat (usually 10 codons long) in the POLG gene was studi...

Journal: :Journal of medical genetics 2009
M J Blok B J van den Bosch E Jongen A Hendrickx C E de Die-Smulders J E Hoogendijk E Brusse M de Visser B T Poll-The J Bierau I F de Coo H J Smeets

BACKGROUND Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions. OBJECTIVE To determine the spectrum of POLG mutations in our Dutch patient cohort, to evaluate the pathogenicity of novel mutations, and to establish genotype-phenotype correlations. RESULTS The authors ide...

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