title: Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation.
abstract: We have recently described a mitochondrial DNA (mtDNA) point mutation at np 3243 in the tRNA(Leu)(UUR) gene in a large Dutch pedigree with maternally inherited diabetes mellitus and deafness (MIDD) illustrating the importance of mitochondrial function in maintenance of a proper glucose homeostasis. In this review we will focus on the prevalence of the mtDNA mutation at np 3243 in diabetic populations, as well as postulate some working models for its pathogenicity.
authors.affiliation: Department of Medical Biochemistry, Sylvius Laboratory, Leiden, The Netherlands.
authors.forename: J M
authors.initials: JM
authors.lastname: van den Ouweland
authors.forename: H H
authors.initials: HH
authors.lastname: Lemkes
authors.forename: K D
authors.initials: KD
authors.lastname: Gerbitz
authors.forename: J A
authors.initials: JA
authors.lastname: Maassen
mesh_terms: D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000150:complications / Q000235:genetics*; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000235:genetics* / Q000378:metabolism; D005947:Glucose / Q000502:physiology; D006801:Humans; D007328:Insulin / Q000378:metabolism; D008928:Mitochondria / Q000502:physiology*; D008969:Molecular Sequence Data; D009035:Mothers; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D007328:Insulin; D012356:RNA, Transfer, Leu; D005947:Glucose