医学遗传学教学课件：Chapter 12-遗传病的分子和生化基础.pptVIP

Chapter 12 Housekeeping proteins; Specialty proteins Enzyme Defects Phenylketonuria (PKU), phenylalanine hydroxylase gene (PAH) Therapy:Dietary reduction of phenylalanine; Newborn screening lesch-Nyhan syndrome: Defect in purine metabolism Hprt, Hypoxanthine guanine phosphoribosyltransferase Lysosomal storage Disease (Gaucher Disease): Substrate accumulation; Lipid-engorged cells ; Enzyme Replacement Therapy (ERT) Defects in Receptor Proteins: Familial Hypercholesterolemia: Low-Density-Lipoprotein Receptor Transport Defects: Cystic Fibrosis; CFTR Chloride Channel Disorders of Structural Proteins: Duchenne Muscular Dystrophy (DMD); Dystrophin Pharmacogenetic Diseases: Pharmacogenetics; Glucose-6-phosphate dehydrogenase (G6PD) deficiency * 对苯丙酮尿症患儿的治疗方法是终身食用低蛋白食物 * Fabry disease was first described independently in 1898 by two separate dermatologists - Johannes Fabry in Germany and William Anderson in England; it is still sometimes referred to as Anderson-Fabry disease. * Fabry disease is an X-linked lysosomal storage disease caused by deficiency of the enzyme
-galactosidase A. This deficiency results in accumulation of globotriaosylceramide (Gb3) in various tissues throughout the. In this Electron photomicrograph of epithelial cells We can see the lysosome, the concentric lamellar membranous inclusions, which is also called “Onion skin”. * HMGCR(3-羟基-3-甲基戊二酸单酰辅酶A还原酶,HMG-CoA reducase)是胆固醇合成过程中的限速酶 * Michael S. Brown Joseph L. Goldstein 1985 We will discuss Enzyme Defects Defects in Receptor Proteins Transport Defects Example: Cystic Fibrosis Disorders of Structural Proteins Pharmacogenetic Diseases Cystic Fibrosis 囊性纤维化 1 affected/2500; 1 carrier/25 in Caucasian CFTR, cystic fibrosis transmembrane conductance regulator囊性纤维化跨膜传导调节蛋白 Life expectancy of the 30,000 CF patients in U.S.A. is under 30 years. Structure Function of CFTR Chloride Channel Cystic Fibrosis We will discuss Enzyme Defects Defects