title: Mitochondrial sequence variants in patients with schizophrenia.
abstract: To investigate whether mitochondrial mutations underly susceptibility to schizophrenia, we sequenced the mtDNAs of two unrelated Swedish patients with schizophrenia and low cytochrome oxidase activity and two maternally related Scottish patients from a family with suspected maternal inheritance of the disease. We found five substitutions in coding regions that have not previously been described as polymorphisms. These new substitutions were studied in 81 schizophrenic patients and five control groups from Sweden and Scotland and found to differ in frequency between populations, emphasizing the importance of using large and well-defined control materials for evaluating the association of mtDNA mutations with disease. The results do not lend strong support to the association of a particular mtDNA substitution with increased risk for schizophrenia. However, the trend towards a higher frequency of substitutions in the patients deserves further attention.
authors.affiliation: Department of Medical Genetics, Uppsala University, Sweden.
authors.forename: E
authors.initials: E
authors.lastname: Lindholm
authors.forename: L
authors.initials: L
authors.lastname: Cavelier
authors.forename: W M
authors.initials: WM
authors.lastname: Howell
authors.forename: I
authors.initials: I
authors.lastname: Eriksson
authors.forename: P
authors.initials: P
authors.lastname: Jalonen
authors.forename: R
authors.initials: R
authors.lastname: Adolfsson
authors.forename: D H
authors.initials: DH
authors.lastname: Blackwood
authors.forename: W J
authors.initials: WJ
authors.lastname: Muir
authors.forename: A J
authors.initials: AJ
authors.lastname: Brookes
authors.forename: U
authors.initials: U
authors.lastname: Gyllensten
authors.forename: E E
authors.initials: EE
authors.lastname: Jazin
mesh_terms: D017124:Conserved Sequence / Q000235:genetics; D030401:Cytochrome-c Oxidase Deficiency; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D012307:Risk Factors; D012559:Schizophrenia / Q000235:genetics*; D012606:Scotland; D017422:Sequence Analysis, DNA; D013548:Sweden
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial