中国科技核心期刊
CN:31-1600/Q
ISSN:1004-0374
“健康与疾病的免疫”国际学术研讨会通知      关于有网站冒充本刊网站的声明
《生命科学》 2008, 20(4): 496-
线粒体疾病与核基因-线粒体基因的表达调控
严庆丰1*,管敏鑫2
(1浙江大学生命科学学院,浙江310058;2美国辛辛那提儿童医学中心人类遗传学系,俄亥俄45229,美国)
摘 要:线粒体与疾病是当前生物医学领域最前沿之一。本文简单介绍线粒体生物医学的基础知识、线粒体疾病的遗传模式,综述了近年来在线粒体DNA(mtDNA)突变和疾病、核基因突变和疾病等领域的研究进展,着重阐明核基因(特别是核修饰基因)调控mtDNA突变致病表达的分子机制。
关键词:线粒体;线粒体疾病;核修饰基因;线粒体DNA
中图分类号:Q343.3+5 ;Q731  文献标识码:A
 
Nuclear genes and mitochondrial genes associated with mitochondrial diseases
YAN Qing-feng 1 *, GUAN Min-xin 2
(1 College of Life Science, Zhejiang University, Hangzhou 310058, China; 2 Division and Program in Human Genetics, Cincinnati Children抯 Hospital Medical Center, Cincinnati, Ohio 45229, USA)
Abstract: The study of mitochondria and diseases is a very hot field in biomedicine. We introduce here the basic knowledge of mitochondrial medicine and the hereditary character of mitochondrial diseases. In this review we highlight the most recent advances in the field, including the correlation of mitochondrial DNA (mtDNA) mutations and diseases, nuclear gene mutations and diseases. In particular, the molecular mechanisms of regulation of nuclear modifier genes on the phenotypic expression of mtDNA mutations are discussed in detail.
Key words: mitochondria; mitochondrial diseases; nuclear modifier genes; mitochondrial DNA (mtDNA)
 
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