Novel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia

Document Type : Original Article

Authors

Department of Biology, Science School, Yazd University, Yazd, Iran.

Abstract

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.

Keywords

References

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