糖原贮积性疾病(GSD-1a)相关动物模型及治疗的研究进展  

Research Progress on Animal Models and Treatments Related to GSD-1a(Glycogen Storage Disease)

作　　者：王晓祎 葛梦婷 谢伊霞 闫俊艳 金立方[1] WANG Xiaoyi;GE Mengting;XIE Yixia;YAN Junyan;JIN Lifang(School of Life Sciences,Shaoxing University,Shaoxing 312000,China)

机构地区：[1]绍兴文理学院,生命科学学院,绍兴312000

出　　处：《中国细胞生物学学报》2021年第10期2029-2036,共8页Chinese Journal of Cell Biology

基　　金：浙江省分析测试和实验动物计划(批准号:2018C37105)资助的课题。

摘　　要：糖原贮积性疾病(GSD-1a)是一种由葡萄糖-6-磷酸酶-α(G6Pase-α或G6PC)缺乏引起的常染色体隐性代谢疾病,临床表现主要为肝肾功能失常,死亡率高。近年研究表明,基于新型基因编辑技术的GSD-1a大型动物模型的构建以及更为高效的基因治疗方法将成为新的研究趋势。该文着眼于近年来GSD-1a疾病的研究进展,从分子遗传基础、动物模型的建立与应用以及药物和基因治疗研究等方面论述动物模型在GSD-1a发生机制及疾病治疗中的探索和应用。GSD-1a(glycogen storage disease type 1a)is an autosomal recessive metabolic disease caused by glucose-6-phosphatase-α(G6Pas-αor G6PC)deficiency.The clinical manifestations are liver and kidney dysfunction with high mortality.The recent establishment of large animal models of GSD-1a based on new gene editing technology and more efficient gene therapy methods will become a new and important research trend.This article focuses on current research progress in GSD-1a as well as its underlying mechanisms and potential treatments based on molecular genetics,animal model establishment and application,and drug and gene therapy.

关 键 词：G6PC GSD-1a 动物模型 基因治疗 

分 类 号：R589.1[医药卫生—内分泌] R-332[医药卫生—内科学]