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