期刊
MOLECULAR GENETICS AND METABOLISM
卷 105, 期 1, 页码 103-109出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2011.09.034
关键词
Schizophrenia; mtDNA; Rare variant; Mitochondrial hypothesis
资金
- Japan Society for the Promotion of Science
- Grants-in-Aid for Scientific Research [23791367] Funding Source: KAKEN
Role of mitochondrial pathology in schizophrenia has not been fully clarified. We searched for distinctive variants in mtDNA extracted from the gray matter of postmortem brains and from peripheral blood samples. We screened mtDNA region containing 5 genes encoding subunits of cytochrome c oxidase and ATPases. Polymorphisms not already reported in databases are recorded as unregistered rare variants. Four unregistered, non-synonymous rare variants were detected in 4 schizophrenic samples. Seven registered non-synonymous variants were not previously detected in non-psychotic Japanese samples registered in the mtSNP database. These variants may contribute to disease pathophysiology. In one family, compound mutations showed co-segregation with schizophrenia. MtDNA mutations could confer a risk for schizophrenia in the Japanese population, although further analyses are needed. (C) 2011 Elsevier Inc. All rights reserved.
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