复旦大学：《医学遗传学 Medical Genetics》课程教学资源（PPT课件讲稿）13 线粒体疾病 mitochondrial diseases

Medical Genetics 13线粒体疾病 mitochondrial diseases

Medical Genetics 13 线粒体疾病 mitochondrial diseases

Medical Genetics Mutations(changes)in the mitochondrial chromosome are responsible for a number of disorders

Medical Genetics Mutations (changes) in the mitochondrial chromosome are responsible for a number of disorders

Medical Genetics Mitochondrial disease is a chronic genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function

Medical Genetics Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function

Medical Genetics The incidence about 1: 3000-4000 individuals in the us. this is similar to the incidence of cystic fibrosis of caucasian births in the u. s

Medical Genetics The incidence about 1:3000-4000 individuals in the US. This is similar to the incidence of cystic fibrosis of caucasian births in the U.S

Medical Genetics There are many forms of mitochondrial disease. mitochondrial disease presents very differently from individual to individual

Medical Genetics There are many forms of mitochondrial disease. Mitochondrial disease presents very differently from individual to individual

Medical Genetics Mitochondrial disease is inherited in a number of different ways There may be one individual in a family or many individuals affected over a number of generations

Medical Genetics Mitochondrial disease is inherited in a number of different ways. There may be one individual in a family or many individuals affected over a number of generations

Medical Genetics 1. Biochemical Genetic abnormalities of mitochondrial function (1)Mitochondrial substrate transport (2) Substrate utilization (3 Citric acid (TCA) cycle (4)Oxidation-Phosphorylation coupling (5) Respiratory chain (6 Lipid membrane defect (7 Nuclear gene defects

Medical Genetics 1. Biochemical & Genetic abnormalities of mitochondrial function (1) Mitochondrial substrate transport (2) Substrate utilization (3) Citric acid (TCA) cycle (4) Oxidation-Phosphorylation coupling (5) Respiratory chain (6) Lipid membrane defect: (7) Nuclear gene defects

Medical Genetics (1) Mitochondrial substrate transport ATP/ADP translocator deficiency ATPase deficiency Carnitine-acylcarnitine translocase deficiency Carnitine deficiency Primary deficiency Secondary deficiency Carnitine palmitoyl transferase Protein import defects Solute carriers

Medical Genetics (1) Mitochondrial substrate transport ATP/ADP translocator deficiency ATPase deficiency Carnitine-acylcarnitine translocase deficiency Carnitine deficiency Primary deficiency Secondary deficiency Carnitine palmitoyl transferase Protein import defects Solute carriers

Medical Genetics (2)Substrate utilization Pyruvate disorders B-oxidation defects(Fatty acid) Ketone synthesis HMG-CoA lyase HMG-COA synthase

Medical Genetics (2) Substrate utilization Pyruvate disorders β-oxidation defects (Fatty acid) Ketone synthesis HMG-CoA lyase HMG-CoA synthase

Medical Genetics (3) Citric acid(TCA) cycle Aconitase deficiency Lipoamide dehydrogenase Fumarase deficiency

Medical Genetics (3) Citric acid (TCA) cycle Aconitase deficiency Lipoamide dehydrogenase Fumarase deficiency