Schizophrenia: maternal inheritance and heteroplasmy of mtDNA mutations.
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.
Project for schizophrenia and affective disorders Research, Tokyo Metropolitan Institute of Medical Science, Tokyo 156-8506, Japan.
Tomoe
T
Ichikawa
Makoto
M
Arai
Mitsuhiro
M
Miyashita
Mayumi
M
Arai
Nanako
N
Obata
Izumi
I
Nohara
Kenichi
K
Oshima
Kazuhiro
K
Niizato
Yuji
Y
Okazaki
Nagafumi
N
Doi
Masanari
M
Itokawa
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009035:Mothers; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012559:Schizophrenia / Q000097:blood / Q000235:genetics*; D055815:Young Adult
D004272:DNA, Mitochondrial