Novel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia

Heidari, Mohammad Mehdi and Khatami, Mehri (2011) Novel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia. Iranian Journal of Basic Medical Sciences, 14 (3). pp. 219-224.

IJBMS_Volume 14_Issue 3_Pages 219-224.pdf

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Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30 FRDA patients and 35 healthy controls. Results We found 3 missense mutations m.10506A>G (T13A), m.10530G>A (V21M), and m.10653G>A (A62T) in four patients whose m.10530G>A and m.10653G>A were not reported previously. In two patients, heteroplasmic m.10530G>A mutation was detected. They showed a very early ataxia syndrome. Our results showed that the number of mutations in FRDA patients was higher than that in the control cases (P= 0.0287). Conclusion Although this disease is due to nuclear gene mutation, the presence of these mutations might be responsible for further mitochondrial defects and the increase of the gravity of the disease. Thus, it should be considered in patients with this disorder.

Item Type: Article
Subjects: QT physiology
Divisions: Journals > Iranian J Basic Medical Sciences
Depositing User: ijbms ijbms
Date Deposited: 12 Dec 2017 18:54
Last Modified: 12 Dec 2017 18:54

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