ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2008
Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 8 citations in OpenAlex.
- Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich's ataxia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- The POLG Polyglutamine Tract Variants in Iranian Patients with Multiple Sclerosis.Iranian journal of child neurology · 2015Article
- Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich's Ataxia.Iranian journal of child neurology · 2014Article
- The POLG Gene Polymorphism in Iranian Varicocele-Associated Infertility Patients.Iranian journal of basic medical sciences · 2012Article
- CAG repeat variants in the POLG1 gene encoding mtDNA polymerase-gamma and risk of breast cancer in African-American women.PloS one · 2012Article
- Current and emerging treatment options in the management of Friedreich ataxia.Neuropsychiatric disease and treatment · 2010Article
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6 authors at 4 institutions in 2 countries.
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Abstract
Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disorder, is in most cases due to a homozygous intronic expansion resulting in the loss of function of frataxin. As mitochondrial DNA (mtDNA) copy number has been decreased in FRDA cells and mtDNA polymerase (POLG) is involved in the replication of mtDNA, we searched a trinucleotide CAG repeat length of this enzyme. The POLG CAG repeat length was determined in DNA samples extracted from 20 FRDA patients and 49 control subjects. Our findings showed that the distribution of the POLG CAG repeat length in the patients' samples matched the distribution for control samples, but we found a statistically significant inverse correlation (r=-0.81) between the POLG CAG repeats and age of onset in FRDA patients. Our results suggest POLG CAG repeat instability would constitute a predisposing factor that, in combination with environmental risk factors, affect age of onset and disease progression.
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