Recent development and gene therapy for glycogen storage disease type Ia  

作　　者：Janice Y.Chou Goo-Young Kim Jun-Ho Cho 

机构地区：[1]Section on Cellular Differentiation,Eunice Kennedy Shriver National Institute of Child Health and Human Development,National Institutes of Health,Bethesda,MD,USA

出　　处：《Liver Research》2017年第3期174-180,共7页肝脏研究（英文）

基　　金：This research was supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development,National Institutes of Health(HD000912-38).

摘　　要：Glycogen storage disease type Ia(GSD-Ia)is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase-α(G6Pase-αor G6PC)that is expressed primarily in the liver,kidney,and intestine.G6Pase-αcatalyzes the hydrolysis of glucose-6-phosphate(G6P)to glucose and phosphate in the terminal step of gluconeogenesis and glycogenolysis,and is a key enzyme for endogenous glucose production.The active site of G6Pase-αis inside the endoplasmic reticulum(ER)lumen.For catalysis,the substrate G6P must be translocated from the cytoplasm into the ER lumen by a G6P transporter(G6PT).The functional coupling of G6Pase-αand G6PT maintains interprandial glucose homeostasis.Dietary therapies for GSD-Ia are available,but cannot prevent the long-term complication of hepatocellular adenoma that may undergo malignant transformation to hepatocellular carcinoma.Animal models of GSD-Ia are now available and are being exploited to both delineate the disease more precisely and develop new treatment approaches,including gene therapy.

关 键 词：Glycogen storage disease type Ia(GSD-Ia) Glucose-6-phosphatase-α(G6Pase-αor G6PC) Gene therapy Hepatocellular adenoma Recombinant adeno-associated virus vector 

分 类 号：R73[医药卫生—肿瘤]