Reliability of m.3700G>A mutation as screening locus for mitochondrial disease

doi:10.3969/j.issn.1673-8640.2017.04.004

Abstract

Abstract:

Objective To evaluate the role of nicotinamide-adenine dinudeotid-dehydrogenase subunit 1 （ND1）gene m.3700G>A mutation for mitochondrial disease,especially Leber's hereditary optic neuropathy. Methods Mitochondrial adenosine triphosphate（ATP） generation,respiratory chain complex activity and steady state level and the level of reactive oxygen species （ROS） were determined in cybrids with m.3700G and m.3700A. Results Mitochondrial oxidative phosphorylation complex Ⅰ was not affected in cells with mutation of m.3700G>A. Mitochondrial ATP generation and the level of ROS were not affected as well. Conclusions The mutation of m.3700G>A might not be related with mitochondrial disease. Therefore,the screening of m.3700G>A mutation is not advised.

Key words: Mitochondrial gene, Mitochondrial disease, Oxidative phosphorylation, Gene mutation

CLC Number:

R446.7

XU Bing, FU Qingzi, YANG Yanling, SHEN Lijun. Reliability of m.3700G>A mutation as screening locus for mitochondrial disease[J]. Laboratory Medicine, 2017, 32(4): 262-266.

Figures/Tables 3

References 15

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