Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia

Schizophrenia Research
Rui BiYong-Gang Yao

Abstract

The relationship between mitochondrial DNA (mtDNA) variants and schizophrenia has been strongly debated. To test whether mtDNA variants are involved in schizophrenia in Han Chinese patients, we sequenced the entire mitochondrial genomes of probands from 11 families with a family history and maternal inheritance pattern of schizophrenia. Besides the haplogroup-specific variants, we found 11 nonsynonymous private variants, one rRNA variant, and one tRNA variant in 5 of 11 probands. Among the nonsynonymous private variants, mutations m.15395 A>G and m.8536 A>G were predicted to be deleterious after web-based searches and in silico program affiliated analysis. Functional characterization further supported the potential pathogenicity of the two variants m.15395 A>G and m.8536 A>G to cause mitochondrial dysfunction at the cellular level. Our results showed that mtDNA variants were actively involved in schizophrenia in some families with maternal inheritance of this disease.

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Citations

Jun 28, 2016·Molecular Neurobiology·Hong LiYong-Gang Yao
Apr 28, 2020·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Peiyan Ni, Sangmi Chung
Dec 12, 2017·International Journal of Cancer. Journal International Du Cancer·Lin MaJianxin Lyu
Dec 6, 2019·Frontiers in Molecular Biosciences·Dayan SunJiucun Wang
Jan 26, 2018·PloS One·Vanessa F GonçalvesJo Knight
Nov 3, 2017·Oxidative Medicine and Cellular Longevity·Huaibin ZhouHezhi Fang

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