母系遗传糖尿病和耳聋综合征分子发病机制的新见解

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

作者信息

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

机构信息

Department of Molecular Cell Biology, Leiden University Medical Centre, Albinusdreef 2, 2333ZA Leiden, The Netherlands.

出版信息

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

DOI:10.1016/j.ecl.2006.02.014

PMID:16632100

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.

摘要

线粒体DNA（mtDNA）中的3243A>G突变是一种基因变异，与一生中患糖尿病的高风险相关。胰腺β细胞的加速老化、这些细胞合成大量胰岛素能力的降低以及ATP/ADP调节的钾通道的重置似乎是其中涉及的致病因素。