Analysis of mitochondrial DNA variants in Japanese patients with schizophrenia

Hitomi Ueno, Yutaka Nishigaki, Qing Peng Kong, Noriyuki Fuku, Shuji Kojima, Nakao Iwata, Norio Ozaki, Masashi Tanaka

Research output: Contribution to journalArticlepeer-review

56 Citations (Scopus)


To test the hypothesis that mitochondrial DNA (mtDNA) variants contribute to the susceptibility to schizophrenia, we sequenced the entire mtDNAs from 93 Japanese schizophrenic patients. Three non-synonymous homoplasmic variants in subunit six of the ATP synthase (MT-ATP6) gene that were detected only in patients but not in controls were suggested to be slightly deleterious, because (1) their original amino acid residues (AA) were highly conserved and (2) the physicochemical differences between the original and altered AA were relatively high. In addition, we detected three novel heteroplasmic variants that were potentially pathogenic. Although functional analysis is needed, rare variants in the mtDNA may convey susceptibility to schizophrenia.

Original languageEnglish
Pages (from-to)385-393
Number of pages9
Issue number6
Publication statusPublished - 11-2009

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Molecular Biology
  • Cell Biology


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