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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。

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New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome.母系遗传糖尿病和耳聋综合征分子发病机制的新见解
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Mitochondrial 3243 BP mutation: a case report.线粒体3243碱基对突变:一例报告
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Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA.母系遗传的糖尿病和耳聋:一种与线粒体DNA突变相关的糖尿病亚型。
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Mitochondrial DNA variations in patients with maternally inherited diabetes and deafness syndrome.母系遗传糖尿病和耳聋综合征患者的线粒体DNA变异
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[A new subtype of diabetes mellitus: maternally inherited diabetes and deafness (MIDD)].[糖尿病的一种新亚型:母系遗传糖尿病伴耳聋(MIDD)]
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Clinical aspects of mitochondrial diabetes.
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Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes.与糖尿病相关的线粒体DNA在tRNA(赖氨酸)中的新型突变(8296A→G)
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A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness.一个患有母系遗传糖尿病和耳聋的家族中,线粒体DNA发生了一个新的G3421A错义突变。
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