Endocrinol Metab Clin North Am. 2006 Jun;35(2):385-96, x-xi.

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

Maassen JA, Jahangir Tafrechi RS, Janssen GM, Raap AK, Lemkes HH, 't Hart LM.

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Department of Molecular Cell Biology, Leiden University Medical Centre, Albinusdreef 2, 2333ZA Leiden, The Netherlands. j.a.maassen@lumc.nl

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.

PMID:: 16632100; [PubMed - indexed for MEDLINE]

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