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

Maassen, Johannes A; Jahangir Tafrechi, Roshan S; Janssen, George M C; Raap, Anton K; Lemkes, Herman H; 't Hart, Leen M.
Endocrinol Metab Clin North Am; 35(2): 385-96, x-xi, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16632100
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.
Selo DaSilva