Schizophrenia: Maternal inheritance and heteroplasmy of mtDNA mutations

作者：Ichikawa Tomoe; Arai Makoto; Miyashita Mitsuhiro; Arai Mayumi; Obata Nanako; Nohara Izumi; Oshima Kenichi; Niizato Kazuhiro; Okazaki Yuji; Doi Nagafumi; Itokawa Masanari^*

来源：Molecular Genetics and Metabolism, 2012, 105(1): 103-109.

DOI：10.1016/j.ymgme.2011.09.034

• Schizophrenia
• mtDNA
• Rare variant
• Mitochondrial hypothesis

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.

• 出版日期2012-1
• 单位河北医科大学