title: New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome.
abstract: The 3243A>G mutation in mitochondrial DNA (mtDNA) is a genetic variant that is associated with a high risk of developing diabetes during life. Enhanced aging of pancreatic beta-cells, a reduced capacity of these cells to synthesize large amounts of insulin,and a resetting of the ATP/ADP-regulated K-channel seem to be the pathogenic factors involved.
authors.affiliation: Department of Molecular Cell Biology, Leiden University Medical Centre, Albinusdreef 2, 2333ZA Leiden, The Netherlands. j.a.maassen@lumc.nl
authors.forename: Johannes A
authors.initials: JA
authors.lastname: Maassen
authors.forename: Roshan S
authors.initials: RS
authors.lastname: Jahangir Tafrechi
authors.forename: George M C
authors.initials: GM
authors.lastname: Janssen
authors.forename: Anton K
authors.initials: AK
authors.lastname: Raap
authors.forename: Herman H
authors.initials: HH
authors.lastname: Lemkes
authors.forename: Leen M
authors.initials: LM
authors.lastname: 't Hart
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D003920:Diabetes Mellitus / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005947:Glucose / Q000378:metabolism; D006801:Humans; D007328:Insulin / Q000502:physiology; D050417:Insulin-Secreting Cells / Q000473:pathology; D008928:Mitochondria / Q000235:genetics* / Q000502:physiology; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial; D007328:Insulin; D005947:Glucose