线粒体DNA突变和相关人类疾病.pdfVIP

HEREDITAS (Beijing) 2007 11 , 29(11): 1299―1308 ISSN 0253-9772 综述 DOI: 10.1360/yc-007-1299 DNA 1,2 1 2 陈刚 , 杜卫东 , 曹慧敏 1. , , 230032; 2. , 200050 : 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。 : 线粒体疾病; 线粒体DNA; 突变; 诊断 Mitochondrial DNA mutations and related human dis- eases 1,2 1 2 CHEN Gang , DU Wei-Dong , CAO Hui-Min 1. Key Lab of Gene Resource Utilization for Severe Hereditary Diseases of Ministry of Education Key Lab of Genome Research of Anhui Province, Anhui Medical University, Hefei 230032, China; 2. Shanghai Institute of Microsystem and Information Technology, Chinese Academy of Science, Shanghai 200050, China Abstract: 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. Keywords: mitochondrial diseases; mitochondrial DNA; mutation; diagnosis , , mtDNA () [1,4] , , 1962 , Luft[5] , (reactive