期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

单基因突变型2型糖尿病与中国人的研究现状和任务 被引量：3

Monogenic type 2 diabetes mellitus and current status and tasks of its study in Chinese
下载PDF
导出
摘要 糖尿病遗传异质性研究结果表明,2型糖尿病(T2DM)分为单基因突变型和多基因易感型两大类,前者又分为严重的胰岛素分泌受损型和显著的胰岛素抵抗型两种。文章概述、分析胰岛素分泌受损为主的单基因突变型即青少年成人起病型糖尿病(MODY)和线粒体基因突变型糖尿病(MDM)的遗传学、病理生理学、临床表型及防治特点,介绍中国人最新的研究进展,并提出今后的研究趋势和任务。 Type 2 diabetes mellitus （T2DM） may be divided into monogenic and polygenic forms based on the heterogeneity in genetic background, and the former one can be further divided into severe impairment of insulin secretion and apparente insulin resistance. This article overviews the genetics, pathophysiology, clinical phenotypes, diagnosis and treatment for maturity-onset diabetes of the young （MODY） and mitochondria diabetes mellitus （MDM） , which are mainly derived from impaired insulin secretion. Furthermore, the related research advances and tasks in Chinese are introduced.
作者 刘丽梅
机构地区 上海交通大学第六人民医院内分泌代谢科上海市糖尿病临床医学中心上海市糖尿病研究所
出处 《上海交通大学学报（医学版）》 CAS CSCD 北大核心 2007年第7期765-769,共5页 Journal of Shanghai Jiao tong University:Medical Science
基金 上海市自然科学基金(06ZR14051) 上海市科委重点基础研究项目基金(02DJ14052-I)~~
关键词 单基因突变型 2型糖尿病 青少年成人起病型糖尿病 线粒体基因突变糖尿病 monogenic form type 2 diabetes mellitus maturity-onset diabetes of the young mitochondria diabetes mellitus
分类号 R587.1 [医药卫生—内分泌]
  • 相关文献

参考文献6

二级参考文献50

  • 1于德民,李明珍,刘德敏.早发糖尿病线粒体基因突变的研究[J].中华医学遗传学杂志,2005,22(1):14-17. 被引量：7
  • 2项坤三,陆惠娟,吴松华,郑泰山,孙多奇,王延庆,贾伟平,钱荣立,翁青,沈卫平,何进卫,严钱勤,浦鎏,何海屏.线粒体tRNA^（Leu（UUR））基因突变糖尿病的基因诊断[J].中华医学杂志,1995,75(4):216-219. 被引量：44
  • 3项坤三.糖尿病的病因异质性及分型[J].中华内分泌代谢杂志,2005,21(4):397-401. 被引量：20
  • 4Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med, 2001, 345:971-980.
  • 5Yamagata K, Furuta H, Oda N, et al. Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1). Nature, 1996, 384:458-460.
  • 6Vionnet N, Stoffel M, Takeda J, et al. Nonsense mutation in the glucokinase gene cause early-onset non-insulin-dependent diabetes mellitus. Nature, 1992, 356:721-722.
  • 7Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in the hepatocyte nuclear factor-1-alpha gene in maturity-onset diabetes of the young (MODY3). Nature, 1996, 384:455-457.
  • 8Stoffers DA, Ferrer J, Clarke WL, et al. Early-onset type-Ⅱ diabetes mellitus(MODY4) link to IPF Ⅰ. Nat Genet, 1997, 17:138-139.
  • 9Horikawa Y, Iwasaki N, Hara M, et al. Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY. Nat Genet, 1997, 17:384-385.
  • 10Malecki MT, Jhala US, Antonellis A, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet, 1999, 23:323-328.

共引文献46

同被引文献62

  • 1Fajans S S,Bell G I,Polonsky K S.Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.N Engl J Med,2001,345:971-980.
  • 2Shimomura H,Sanke T,Hanabusa T,et al.Nonsense mutation of islet-1 gene (Q310X) found in a type 2 diabetic patient with a strong family history.Diabetes,2000,49:1597-1600.
  • 3Karlsson O,Thor S,Norberg T,et al.Insulin gene enhancer binding protein Isl-1 is a member of a novel class of proteins containing both a homeo-and a Cys-His domain.Nature,1990,344:879-882.
  • 4Riggs A C,Tanizawa Y,Aoki M,et al.Characterization of the LIM/homeodomain gene islet-1 and single nucleotide screening in NIDDM.Diabetes,1995,44:689-694.
  • 5Li H,Heilbronn L K,Hu D,et al.Islet-1:a potentially important role for an islet cell gene in visceral fat.Obesity (Silver Spring),2008,16:356-362.
  • 6Tanizawa Y,Riggs A C,Dagogo-Jack S,et al.Isolation of the human LIM/homeodomain gene islet-1 and identification of a simple sequence repeat polymorphism[corrected].Diabetes,1994,43:935-941.
  • 7Ando K,Shioda S,Handa H,et al.Isolation and characterization of an alternatively spliced variant of transcription factor Islet-1.J Mol Endocrinol,2003,31:419-425.
  • 8Holm P,Rydlander B,Luthman H,et al.Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families.Diabetes,2004,53:1584-1591.
  • 9Suzuki C,Nagasaki H,Okajima Y,et al.The LIM domain homeobox gene ial-1 is a positive regulator of glycoprotein alpha 2 (GPA2),a subunit of thyrostimulin.Regul Pept,2007,142:60-67.
  • 10Hashimoto T,Nakamura T,Maegawa H,et al.Regulation of ATP-sensitive potassium channel subunit Kit6.2 expression in rat intestinal insulin-producing progenitor cells.J Biol Chem,2005,280:1893-1900.

引证文献3

二级引证文献5

上海交通大学学报（医学版）
2007年 第7期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部