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 onl...
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| Veröffentlicht in: | Mitochondrion 2009-11, Vol.9 (6), p.385-393 |
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| container_title | Mitochondrion |
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| creator | Ueno, Hitomi Nishigaki, Yutaka Kong, Qing-Peng Fuku, Noriyuki Kojima, Shuji Iwata, Nakao Ozaki, Norio Tanaka, Masashi |
| description | 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. |
| doi_str_mv | 10.1016/j.mito.2009.06.003 |
| format | Article |
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| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adolescent Adult Amino Acid Substitution - genetics Asian Continental Ancestry Group - genetics DNA, Mitochondrial - chemistry DNA, Mitochondrial - genetics Female Genetic Predisposition to Disease Humans Japan Male Middle Aged Mitochondrial Proton-Translocating ATPases - genetics Mutation, Missense Schizophrenia - genetics Sequence Analysis, DNA Young Adult |
| title | Analysis of mitochondrial DNA variants in Japanese patients with schizophrenia |
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