title: A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus.
abstract: Mitochondria play an important role in glucose-induced insulin secretion in pancreatic beta cells. We therefore examined whether patients with NIDDM exhibit genetic variability in mitochondrial DNA (mtDNA), a candidate gene for NIDDM. We sequenced mtDNA in the region encoding tRNALeu and the adjacent region in several diabetic patients with clinical features suggesting mitochondrial DNA mutations. We found a new point mutation at position 3316 that leads to an amino acid change in the ND-1 protein. The frequency of the mutation was screened with PCR-RFLP in 295 NIDDM patients and 406 controls. We found ten NIDDM patients (3.4%) harbored the mutation. Although 4 control subjects had the mutation, the frequency was significantly higher in the NIDDM patients than in the control subjects (p = 0.02). These results suggest that the 3316 mutation is associated with NIDDM.
authors.affiliation: Department of Geriatric Medicine, Osaka University Medical School, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Nakagawa
authors.forename: H
authors.initials: H
authors.lastname: Ikegami
authors.forename: E
authors.initials: E
authors.lastname: Yamato
authors.forename: K
authors.initials: K
authors.lastname: Takekawa
authors.forename: T
authors.initials: T
authors.lastname: Fujisawa
authors.forename: Y
authors.initials: Y
authors.lastname: Hamada
authors.forename: H
authors.initials: H
authors.lastname: Ueda
authors.forename: Y
authors.initials: Y
authors.lastname: Uchigata
authors.forename: T
authors.initials: T
authors.lastname: Miki
authors.forename: Y
authors.initials: Y
authors.lastname: Kumahara
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry; D004272:DNA, Mitochondrial / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial