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 ndividuals 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 n 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 ()Respiratory chain (6) Lipid membrane defect ()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 ruvate 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
