title: [A new subtype of diabetes mellitus: maternally inherited diabetes and deafness (MIDD)].
abstract: Diabetes mellitus comprises many subtypes, the pathogenesis of each of which involves a combination of inherited and environmental factors. Recently a new subtype of diabetes mellitus was recognized in a Dutch pedigree, designated as 'maternally inherited diabetes and deafness' (MIDD). Impaired hearing is an associated phenomenon of the disease. Approximately 1.3% of all diabetic cases in the Netherlands exhibit the MIDD subtype. MIDD shows a strictly maternal heredity. In MIDD there is a guanine-for-adenine substitution at position 3243 in mitochondrial DNA. Mitochondria carrying this mutation exhibit a decreased functionality. In carriers of the MIDD mutation the insulin secretion by the pancreas in response to stimulation by glucose is impaired.
authors.affiliation: Rijksuniversiteit, vakgroep Medische Biochemie, Leiden.
authors.forename: J A
authors.initials: JA
authors.lastname: Maassen
authors.forename: J J
authors.initials: JJ
authors.lastname: Jansen
authors.forename: J M
authors.initials: JM
authors.lastname: van den Ouweland
authors.forename: L M
authors.initials: LM
authors.lastname: Hart
authors.forename: E H
authors.initials: EH
authors.lastname: van Essen
authors.forename: H H
authors.initials: HH
authors.lastname: Lemkes
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000145:classification / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D013577:Syndrome; D014158:Transcription, Genetic
chemical_list: D004272:DNA, Mitochondrial