第十章 线粒体基因病15-10-29.ppt

线粒体基因病 Mitochondrial genic disorders /Glossary Mitochondrial genic disorders 定义：由于mtDNA结构和功能异常所致的疾病称为线粒体基因病。该病不同于由核基因突变引起的遗传病，是一组独特的遗传病。 线粒体和氧化磷酸化 线粒体遗传学 线粒体基因病 核基因突变所致的线粒体病 Mitochondrial genic disorders Organization of human mitochondrial DNA (mtDNA) 形态： 光镜下可见一种体积较大的细胞器，呈粗线状或颗粒状。 功能： 线粒体是细胞能量储存和供给的场所。 细胞的“发电厂”（产生90%的ATP）。 Mitochondria, minute sausage-shaped structures found in the cytoplasm of the cell, are responsible for energy production. Mitochondria contain enzymes that help to convert food material into adenosine triphosphate (ATP), which can be used directly by the cell as an