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

线粒体DNA突变与相关人类疾病 被引量：15

Mitochondrial DNA mutations and related human diseases
下载PDF
导出
摘要 在过去的20年里,人们发现线粒体DNA(mitochondrial DNA,mtDNA)突变与多种人类疾病相关,其致病范围从单器官组织损害到多系统受累。文章目的在于探讨mtDNA突变与人类疾病的关系。文章重点论述:(1)线粒体遗传学特征;(2)mtDNA突变与人类遗传性疾病;(3)体细胞mtDNA突变在衰老和肿瘤中的作用;(4)mtDNA疾病的诊断和治疗。 In the past two decades, it has been found that mitochondrial DNA （mtDNA） mutations are associated with a wide range of human diseases, from those affecting single organ to those with multi-system involvement. The purpose of this review is to explore the relationship between mtDNA mutations and human diseases. Four aspects are highlighted： characteristics of mitochondrial genetics, mtDNA mutations in human inherited diseases, role of somatic mtDNA mutations in aging and tumor, as well as diagnosis and treatment of mtDNA diseases.
作者 陈刚 杜卫东 曹慧敏
机构地区 安徽医科大学省部共建教育部重要遗传病基因资源利用重点实验室 中国科学院上海微系统与信息技术研究所
出处 《遗传》 CAS CSCD 北大核心 2007年第11期1299-1308,共10页 Hereditas（Beijing)
基金 国家自然科学基金项目(编号:30470591) 安徽省自然科学基金项目(编号:050430716) 安徽省"十五"高校学科拔尖人才基金项目资助~~
关键词 线粒体疾病 线粒体DNA 突变 诊断 mitochondrial diseases mitochondrial DNA mutation diagnosis
分类号 Q987 [生物学—遗传学]
  • 相关文献

参考文献60

  • 1Wallace DC.Mitochondrial diseases in man and mouse.Science,1999,283(5407):1482-1488.
  • 2DiMauro S,Schon EA.Mitochondrial respiratory-chain diseases.N Engl J Med,2003,348(26):2656-2668.
  • 3Ghelli A,Zanna C,Porcelli AM,Schapira AH,Martinuzzi A,Carelli V,Rugolo M.Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium.J Biol Chem,2003,278(6):4145-4150.
  • 4Brandon MC,Lott MT,Nguyen KC,Spolim S,Navathe SB,Baldi P,Wallace DC.MITOMAP:a human mitochondrial genome database-2004 update.Nucleic Acids Res,2005,33(Database issue):D611-613.
  • 5Luft R,IKKos D,Palmieri G Ernster L,Afzelius B.A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control:a correlated clinicai.biochemical,and morphological study.J Clin Invest,1962,41:1776-1804.
  • 6Holt IJ,Harding AE,Morgan-Hughes JA.Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies.Nature,1988,331(6158):717-719.
  • 7Wallace DC,Singh G,Lott MT,Hedge JA,Schurr TG,Lezza AM,Elsas LJ 2nd,Nikoskelainen EK.Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.Science,1988,242(4884):1427-1430.
  • 8Majamaa K,Moilanen JS,Uimonen S,Remes AM,Salmela PI,Karppa M,Majamaa-Voltti KA,Rusanen H,sorri M,Peuhkurinen KJ,Hassinen IE.Epidemiology of A3243G,the mutation for mitochondrial encephalomyopathy,lactic acidosis,and strokelike episodes:prevalence of the mutation in all adult population.Am J Hum Genet,1998,63(2):447-454.
  • 9Schaefer AM,Taylor RW,Turnbull DM,Chinnery PF.The epidemiology of mitochondrial disorders-past,present and future.Biochim Biophys Acta,2004,1659(2-3):115-120.
  • 10Taylor RW,Turnbull DM.Mitochondrial DNA mutations in human disease.Nat Rev Genet,2005,6(5):389-402.

二级参考文献26

  • 1Nishikawa M, Nishiguchi S, Shiomi S, Tamori A, Koh N, Takeda T, Kubo S, Hirohashi K, Kinoshita H, Sato E, Inoue M. Somatic mutation of mitochondrial DNA in carcerous and noncarcerous liver tissue in individuals with hepatocellular carcinoma. Cancer Research, 2001, 61(5):1843～1845.
  • 2Yamamoto H,Tanaka M,Katayama M,Obayashi T,Nimura Y,Ozawa T.Significant existence of deleted mitochondrial DNA in cirrhotic liver surrounding hepatic tumor.Biochem Biophys Res Commun,1992,182:913～920.
  • 3Kotake K,Nonami T,Kurokawa T,Nakao A,Murakami T,Shimomura Y.Human livers with cirrhosis and hepatocellular carcinoma have less mitochondrial DNA deletion than normal human livers.Life Sci,1999,64(19):1785～1791.
  • 4Richter C,Park J W,Ames B N. Normal oxidative damage to mitochondrial and muclear DNAis extensive.Proc Natl Acad Sci USA, 1988, 85 (17): 6465～6477.
  • 5Cadet J,Berger M,Douki T,Morin B,Raoul S,Ravanat J L,Spinelli S.Oxidative damage to DNA: formation, measurement,and biological significance.Rev Physiol Biochem Pharmacol, 1997,131:1～87.
  • 6Richter C.Oxidative damage to mitochondrial DNA and its relationship to ageing.Int J Biochem Cell Biol, 1995,27(7):647～653. Review.
  • 7Nomoto S, Yamashita K, Koshikawa K, Nakao A, Sidransky D.Mitochondrial D-Loop mutations as clonal markers in multicentric hepatocellular carcinoma and plasma.Clin Cancer Res, 2002,8(2):481～487.
  • 8Gille J J,Joenje H.Cell culture models for oxidative stress:superoxide and hydrogen peroxide versus normolaric hyperoxia.Mutat Res, 1992, 275:405～414.
  • 9Zhang Y,Marcillat O,Giulivi C,Ernster L,Davies K J.The oxidative inactivation of mitochondrial electron transport chain components and ATPase. J Biol Chem,1990,265:16330～16336.
  • 10Allen R G,Balin A K.Oxidative influnce on development and differentiation:An overview of a free radical theory of development.Free Radical Biology & Medicine,1989,6(6):631～661.

共引文献41

同被引文献185

引证文献15

二级引证文献67

遗传
2007年 第11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