title: Mitochondrial diabetes mellitus: a review.
abstract: We review the relationship between various types of mitochondrial DNA mutations and the prevalence as well as the pathobiochemical and clinical features of mitochondrial diabetes mellitus. An A to G transversion mutation in the tRNA(Leu(UUR)) gene is associated with diabetes in about 1.5% of the diabetic population in different countries and races. Phenotypically this type of mitochondrial diabetes is combined with deafness in more than 60% and is clinically distinguishable with respect to several characteristics from the two idiopathic forms of diabetes. The underlying pathomechanism is probably a delayed insulin secretion due to an impaired mitochondrial ATP production in consequence of the mtDNA defect.
authors.affiliation: Institutes of Clinical Chemistry and Diabetes Research, Academic Hospital Schwabing, Munich, Germany.
authors.forename: K D
authors.initials: KD
authors.lastname: Gerbitz
authors.forename: J M
authors.initials: JM
authors.lastname: van den Ouweland
authors.forename: J A
authors.initials: JA
authors.lastname: Maassen
authors.forename: M
authors.initials: M
authors.lastname: Jaksch
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000378:metabolism*; D008954:Models, Biological; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu; D000255:Adenosine Triphosphate