title: Mitochondrial DNA 3394 mutation in the NADH dehydrogenase subunit 1 associated with non-insulin-dependent diabetes mellitus.
abstract: Mitochondrial DNA (mtDNA) mutation is associated with a subtype of non-insulin-dependent diabetes mellitus (NIDDM). We identified two homoplasmic mtDNA mutations at the positions of 3394 (T-C) and 3423 (G-T) in a NIDDM patient with clinical features of mitochondrial encephalopathy. The mtDNA 3394T-C mutation changed a conserved tyrosine to a histidine in NADH dehydrogenase subunit 1. The frequency of mtDNA 3994 T-C mutation was determined with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) in general NIDDM patients and nondiabetic control subjects. The mutation was seen in 4.9% of NIDDM patients and 1.3% of nondiabetic controls. It is indicated that the mtDNA 3394 T-C mutation is associated with NIDDM in Japan.
authors.affiliation: Third Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Hirai
authors.forename: S
authors.initials: S
authors.lastname: Suzuki
authors.forename: M
authors.initials: M
authors.lastname: Onoda
authors.forename: Y
authors.initials: Y
authors.lastname: Hinokio
authors.forename: L
authors.initials: L
authors.lastname: Ai
authors.forename: A
authors.initials: A
authors.lastname: Hirai
authors.forename: M
authors.initials: M
authors.lastname: Ohtomo
authors.forename: K
authors.initials: K
authors.lastname: Komatsu
authors.forename: S
authors.initials: S
authors.lastname: Kasuga
authors.forename: Y
authors.initials: Y
authors.lastname: Satoh
authors.forename: H
authors.initials: H
authors.lastname: Akai
authors.forename: T
authors.initials: T
authors.lastname: Toyota
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009245:NADH Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D012356:RNA, Transfer, Leu / Q000235:genetics
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial; D046911:Macromolecular Substances; D012356:RNA, Transfer, Leu; D009245:NADH Dehydrogenase