Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia. Schizophr Res, 2016, 171(1-3): 200-6

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

Author: Bi R, Tang J, Zhang W, Li X, Chen SY, Yu D, Chen X, Yao YG

Publication Name: Schizophr Res

Pub Year: 2016

Volume: 171

Issue: 1-3

Page Number: 200-6

IF: 4.453 

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 11families 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 inschizophrenia in some families with maternal inheritance of this disease.