New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome.
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.
Maassen
Johannes A
JA
Department of Molecular Cell Biology, Leiden University Medical Centre, Albinusdreef 2, 2333ZA Leiden, The Netherlands. j.a.maassen@lumc.nl
Jahangir Tafrechi
Roshan S
RS
Janssen
George M C
GM
Raap
Anton K
AK
Lemkes
Herman H
HH
't Hart
Leen M
LM
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
D004272:DNA, Mitochondrial; D007328:Insulin; D005947:Glucose