[1]母系遗传性糖尿病伴耳聋发病机制及诊治.母系遗传性糖尿病伴耳聋发病机制及诊治[J].国际内分泌代谢杂志,2017,37(06):408-410,425.
 Wang Chaoqun*,Lu Bin,Xu Yifeng,et al.Pathogenesis, diagnosis and treatment of maternally inherited diabetes mellitus with deafness[J].International Journal of Endocrinology and Metabolism,2017,37(06):408-410,425.
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母系遗传性糖尿病伴耳聋发病机制及诊治()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
37
期数:
2017年06期
页码:
408-410,425
栏目:
综述
出版日期:
2017-11-20

文章信息/Info

Title:
Pathogenesis, diagnosis and treatment of maternally inherited diabetes mellitus with deafness
作者:
母系遗传性糖尿病伴耳聋发病机制及诊治
200433 上海,第二军医大学长海医院内分泌科(王超群,许忆峰,郭庆军); 200433 上海,第二军医大学药学院生化药学教研室(陆斌); 200003 上海,第二军医大学长征医院内分泌科(郑骄阳)
Author(s):
Wang Chaoqun* Lu Bin Xu Yifeng Guo Qingjun Zheng Jiaoyang.
*Department of Endocrinology, Changhai Hospital, The Second Military Medical University, Shanghai 200433, China
关键词:
母系遗传性糖尿病伴耳聋 线粒体疾病 异质性
Keywords:
Maternally inherited diabetes mellitus with deafness Mitochondrial diseases Heterogeneity
文献标志码:
A
摘要:
母系遗传性糖尿病伴耳聋(MIDD)是一种线粒体疾病,在糖尿病患者中约占1%。其中tRNALeu(UUR)A3243G突变引起胰岛β细胞胰岛素分泌功能障碍是其致糖尿病的主要原因,但具体机制仍不明确。近年EndoC-βH1细胞系的建立为研究其机制提供了途径。尿道上皮细胞与线粒体疾病表型相关性最好,尿液可作为临床诊断和检测线粒体DNA异质性首选的样本,而MIDD的治疗仍以抗氧化剂和预防糖尿病并发症为主。A3243G突变的临床表型和MIDD突变的组织异质性仍是研究的热点,其研究对MIDD的诊断和治疗具有重要的指导意义。
Abstract:
Maternally inherited diabetes mellitus with deafness(MIDD)is a mitochondrial disorder, accounting for 1% of patients with diabetes mellitus. Insulin secretion dysfunction of β cell caused by tRNALeu(UUR) A3243G mutation may be the main reason of mutation induced diabetes, but the mechanism is not clear. The establishment of EndoC-βH1 cell line provides a way for the study of its mechanism. Heteroplasmy in urinary epithelial cells had the strongest correlation with the phenotype of mitochondrial disease and was considered as the preferred sample to genetic diagnosis and test the heteroplasmy mtDNA. The treatment of MIDD is still focusing on the antioxidant and prevention of diabetic complications. The various clinical phenotypes of A3243G mutations and the heterogeneity of MIDD mutations are still the focus of research, which is of great significance to guide the diagnosis and treatment of MIDD.

参考文献/References:

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备注/Memo

备注/Memo:
通信作者:郑骄阳,Email:zhengjiaoyang@hotmail.com
更新日期/Last Update: 2017-11-30