NOVEL MISSENSE MITOCHONDRIAL ND4L GENE MUTATIONS IN FRIEDREICH'S ATAXIA

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HEIDARI MOHAMMAD MEHDI; KHATAMI MEHRI

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Journal Paper

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Journal: Iranian Journal of Basic Medical Sciences Year:2011 | Volume:14 | Issue:3 (50) Page(s): 219-224

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Information Journal Paper

Title

NOVEL MISSENSE MITOCHONDRIAL ND4L GENE MUTATIONS IN FRIEDREICH'S ATAXIA

Author(s)

HEIDARI MOHAMMAD MEHDI | KHATAMI MEHRI | Issue Writer Certificate

Keywords

FRIEDREICH'S ATAXIA (FRDA)

MTDNA

MUTATION

ND4L GENE

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.

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APA: Copy

HEIDARI, MOHAMMAD MEHDI, & KHATAMI, MEHRI. (2011). NOVEL MISSENSE MITOCHONDRIAL ND4L GENE MUTATIONS IN FRIEDREICH'S ATAXIA. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, 14(3 (50)), 219-224. SID. https://sid.ir/paper/564323/en

Vancouver: Copy

HEIDARI MOHAMMAD MEHDI, KHATAMI MEHRI. NOVEL MISSENSE MITOCHONDRIAL ND4L GENE MUTATIONS IN FRIEDREICH'S ATAXIA. IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES[Internet]. 2011;14(3 (50)):219-224. Available from: https://sid.ir/paper/564323/en

IEEE: Copy

MOHAMMAD MEHDI HEIDARI, and MEHRI KHATAMI, “NOVEL MISSENSE MITOCHONDRIAL ND4L GENE MUTATIONS IN FRIEDREICH'S ATAXIA,” IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES, vol. 14, no. 3 (50), pp. 219–224, 2011, [Online]. Available: https://sid.ir/paper/564323/en

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