Analysis of mitochondrial DNA variants in Japanese patients with schizophrenia.
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.
Ueno
Hitomi
H
Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Itabashi-ku, Japan.
Nishigaki
Yutaka
Y
Kong
Qing-Peng
QP
Fuku
Noriyuki
N
Kojima
Shuji
S
Iwata
Nakao
N
Ozaki
Norio
N
Tanaka
Masashi
M
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics; D020125:Mutation, Missense; D012559:Schizophrenia / Q000235:genetics*; D017422:Sequence Analysis, DNA; D055815:Young Adult
D004272:DNA, Mitochondrial; C501005:MT-ATP6 protein, human; D025261:Mitochondrial Proton-Translocating ATPases