title: Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population. Mutation in brief no. 239. Online.
abstract: Type 2 (non-insulin dependent) diabetes mellitus may be inherited along the maternal line and a variety of mitochondrial DNA (mtDNA) variants have been implicated in the pathogenesis. We have previously reported mutations in five regions of the mitochondrial genome which encompass 11 of the 22 tRNA genes. Now we employ the technique of single stranded conformational polymorphism (SSCP) analysis to investigate a further 6 regions of the mitochondrial genome, covering the remaining 11 tRNA genes in 40 patients with Type 2 diabetes and 30 racially-matched normal controls. A variety of homoplasmic mutations were detected in patients with diabetes and these will be of value in further population association studies.
authors.affiliation: Department of Medicine, University of Wales College of Medicine, Cardiff, UK.
authors.forename: E J
authors.initials: EJ
authors.lastname: Sherratt
authors.forename: A W
authors.initials: AW
authors.lastname: Thomas
authors.forename: J W
authors.initials: JW
authors.lastname: Gagg
authors.forename: A
authors.initials: A
authors.lastname: Majid
authors.forename: J C
authors.initials: JC
authors.lastname: Alcolado
mesh_terms: D004272:DNA, Mitochondrial; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D014852:Wales
chemical_list: D004272:DNA, Mitochondrial