| 线粒体病的分子生物学机制 |
| |
| 引用本文： | 刘誉,韦建鸽,吴彬彬,兰菲菲.线粒体病的分子生物学机制[J].暨南大学学报,2011,32(2):115-121. |
| |
| 作者姓名： | 刘誉 韦建鸽 吴彬彬 兰菲菲 |
| |
| 作者单位： | 1. 暨南大学,医学院,生化教研室,广东,广州,510632
2. 广东省妇幼保健院,产前诊断中心,广东,广州,510010 |
| |
| 基金项目： | 广东省科技计划项目(2006B35502010); 广州市科技基金项目(2010Y1-C871) |
| |
| 摘 要： | 线粒体病是一种少见的能量代谢病,病情复杂多样,从单一组织损伤或无明显临床症状到多系统发病乃致患者早期死亡,在临床上容易误诊或漏诊,甚至延误治疗.由于线粒体的结构与功能受核基闪组(nDNA)与线粒体基冈组(mtDNA)双重调控,其中大多数线粒体酶、结构蛋白和各种蛋白因子由nDNA编码,因而多数原发性线粒体病是nDNA突变...
|
| 关 键 词： | 线粒体病 核基因组突变 线粒体基因组突变 母系遗传 |
The molecular biological mechanism of mitochondrial diseases |
| |
| LIU Yu,WEI Jian-ge,WU Bing-bing,LAN Fei-fei.The molecular biological mechanism of mitochondrial diseases[J].Journal of Jinan University(Natural Science & Medicine Edition),2011,32(2):115-121. |
| |
| Authors: | LIU Yu WEI Jian-ge WU Bing-bing LAN Fei-fei |
| |
| Institution: | LIU Yu1,WEI Jian-ge1,WU Bing-bing1,LAN Fei-fei2(1.Deptartment of Biochemistry,Medical College,Jinan University,Guangzhou 510632,China,2.Center of Prenatal Diagnosis,Maternal and Child Health Hospital of Guangdong Province,Guangzhou 510010,China) |
| |
| Abstract: | Mitochondrial diseases are a group of rare disorders due to defects of energy metabolism in mitochondria.The clinical phenotype of mitochondrial diseases ranges from a single structural defect in tissues or no symptoms to multisystemic lesions or even death in early ages.Therefore,this type of diseases are often clinically misdiagnosed or even delayed for treatment.Biologically,structure and function of mitochondria are under the dual control of the mitochondrial genome(mtDNA) and the nuclear genome(nDNA).D... |
| |
| Keywords: | mitochondrial disease mtDNA mutation nDNA mutation maternal inheritance |
| 本文献已被 CNKI 万方数据 等数据库收录！ |
|
