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

Rui Bi; Jinsong Tang; Wen Zhang; Xiao Li; Shi Yi Chen; Dandan Yu; Xiaogang Chen; Yong Gang Yao

doi:10.1016/j.schres.2016.01.011

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

Rui Bi
, Jinsong Tang
, Wen Zhang
, Xiao Li
, Shi Yi Chen
, Dandan Yu
, Xiaogang Chen
, Yong Gang Yao

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

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.

Original language	English
Pages (from-to)	200-206
Number of pages	7
Journal	Schizophrenia Research
Volume	171
Issue number	1-3
DOIs	https://doi.org/10.1016/j.schres.2016.01.011
State	Published - 1 Mar 2016
Externally published	Yes

Keywords

Allotopic expression
Maternal inheritance
MtDNA
Private variant
Schizophrenia

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10.1016/j.schres.2016.01.011

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title = "Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia",

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.",

keywords = "Allotopic expression, Maternal inheritance, MtDNA, Private variant, Schizophrenia",

author = "Rui Bi and Jinsong Tang and Wen Zhang and Xiao Li and Chen, \{Shi Yi\} and Dandan Yu and Xiaogang Chen and Yao, \{Yong Gang\}",

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year = "2016",

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doi = "10.1016/j.schres.2016.01.011",

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T1 - Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia

AU - Bi, Rui

AU - Tang, Jinsong

AU - Zhang, Wen

AU - Li, Xiao

AU - Chen, Shi Yi

AU - Yu, Dandan

AU - Chen, Xiaogang

AU - Yao, Yong Gang

PY - 2016/3/1

Y1 - 2016/3/1

N2 - 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.

AB - 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.

KW - Allotopic expression

KW - Maternal inheritance

KW - MtDNA

KW - Private variant

KW - Schizophrenia

UR - https://www.scopus.com/pages/publications/84958116311

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DO - 10.1016/j.schres.2016.01.011

M3 - Article

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AN - SCOPUS:84958116311

SN - 0920-9964

VL - 171

SP - 200

EP - 206

JO - Schizophrenia Research

JF - Schizophrenia Research

IS - 1-3

ER -

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

Abstract

Keywords

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