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

Endocrinology and Metabolism Clinics of North America
J A MaassenLeen M 'T Hart

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.

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Citations

Oct 13, 2009·Journal of Inherited Metabolic Disease·M SchiffP Rustin
Apr 17, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Julie Robitaille, Althea M Grant
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