New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome

Johannes A Maassen; Roshan S Jahangir Tafrechi; George M C Janssen; Anton K Raap; Herman H Lemkes; Leen M 't Hart

doi:10.1016/j.ecl.2006.02.014

New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome

Endocrinol Metab Clin North Am. 2006 Jun;35(2):385-96, x-xi. doi: 10.1016/j.ecl.2006.02.014.

Authors

Johannes A Maassen¹, Roshan S Jahangir Tafrechi, George M C Janssen, Anton K Raap, Herman H Lemkes, Leen M 't Hart

Affiliation

¹ Department of Molecular Cell Biology, Leiden University Medical Centre, Albinusdreef 2, 2333ZA Leiden, The Netherlands. [email protected]

PMID: 16632100
DOI: 10.1016/j.ecl.2006.02.014

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.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

DNA, Mitochondrial / genetics*
Deafness / genetics*
Deafness / physiopathology
Diabetes Mellitus / genetics*
Diabetes Mellitus / physiopathology
Female
Glucose / metabolism
Humans
Insulin / physiology
Insulin-Secreting Cells / pathology
Mitochondria / genetics*
Mitochondria / physiology
Point Mutation*

Substances

DNA, Mitochondrial
Insulin
Glucose