NDLI: A Novel Mitochondrial Heteroplasmic C13806A Point Mutation Associated with Iranian Friedreich’s Ataxia

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A Novel Mitochondrial Heteroplasmic C13806A Point Mutation Associated with Iranian Friedreich’s Ataxia

Content Provider	Springer Nature Link
Author	Heidari, Mohammad Mehdi Houshmand, Massoud Hosseinkhani, Saman Nafissi, Shahriar Scheiber Mojdehkar, Barbara Khatami, Mehri
Copyright Year	2008
Abstract	Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by decreased expression of the protein Frataxin. Frataxin deficiency leads to excessive free radical production and dysfunction of chain complexes. Mitochondrial DNA (mtDNA) could be considered a candidate modifier factor for FRDA disease, since mitochondrial oxidative stress is thought to be involved in the pathogenesis of this disease. It prompted us to focus on the mtDNA and monitor the nucleotide changes of genome which are probably the cause of respiratory chain defects and reduced ATP generation. We searched about 46% of the entire mitochondrial genome by temporal temperature gradient gel electrophoresis (TTGE) and DNA fragments showing abnormal banding patterns were sequenced for the identification of exact mutations. In 18 patients, for the first time, we detected 26 mtDNA mutations; of which 5 (19.2%) was novel and 21 (80.8%) have been reported in other diseases. Heteroplasmic C13806A polymorphisms were associated with Iranian FRDA patients (55.5%). Our results showed that NADH dehydrogenase (ND) genes mutations in FRDA samples were higher than normal controls (P < 0.001) and we found statistically significant inverse correlation (r = −0.8) between number of mutation in ND genes and age of onset in FRDA patients. It is possible that mutations in ND genes could constitute a predisposing factor which in combination with environmental risk factors affects age of onset and disease progression.
Starting Page	225
Ending Page	233
Page Count	9
File Format	PDF
ISSN	02724340
Journal	Cellular and Molecular Neurobiology
Volume Number	29
Issue Number	2
e-ISSN	15736830
Language	English
Publisher	Springer US
Publisher Date	2008-09-19
Publisher Place	Boston
Access Restriction	Subscribed
Subject Keyword	Friedreich’s ataxia (FRDA) MtDNA NADH dehydrogenase (ND) genes Mutation TTGE Animal Anatomy / Morphology / Histology Neurosciences
Content Type	Text
Resource Type	Article
Subject	Cell Biology Medicine Cellular and Molecular Neuroscience

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