单基因肥胖症的遗传机制和治疗.PDFVIP

中华老年多器官疾病杂志 2014 年2 月28 日 第 13 卷 第2 期 Chin J Mult Organ Dis Elderly, Vol.13, No.2, Feb 28, 2014 ·157 · ·综 述 · 单基因肥胖症的遗传机制和治疗 1 1 1 1 2 2* 洪楠超 ，赵 越 ，刘 晓 ，武贝贝 ，贾伟平 ，胡 承 1 2 （上海交通大学附属第六人民医院临床医学院，上海 200233 ；上海交通大学附属第六人民医院内分泌与代谢科，上海市糖 尿病研究所，上海 200233 ） 【摘 要】肥胖症是一种慢性病。据世界卫生组织估计，肥胖症是人类目前面临的最容易被忽视、发病率却在逐年迅 速上升的一种疾病。单基因肥胖症是肥胖症中较特殊的一种，是由单个基因突变导致的肥胖症。随着分子生物学的发 展及各项技术的进步，目前人类已经发现了导致单基因肥胖症的10余个主要基因。该文着重就已发现的导致单基因肥 胖症的几个主要突变基因进行论述，包括突变基因简介、突变位点及分子机制等。 【关键词】肥胖症；突变；基因 【中图分类号】 R723.14 【文献标识码】 A 【DOI 】 10.3724/SP.J.1264.2014.00038 Genetic mechanism of monogenetic obesity 1 1 1 1 2 2* HONG Nan-Chao , ZHAO Yue , LIU Xiao , WU Bei-Bei , JIA Wei-Ping , HU Cheng 1 2 ( Clinical Medical College, Department of Endocrinology and Metabolism, Shanghai Institute of Diabetes, the Sixth People’s Hospital, Shanghai Jiao Tong University, Shanghai 200233, China) 【Abstract 】 Obesity is a chronic disease. According to the repcrt of the World Health Organization, obesity is the most easily neglected disease currently, while its incidence is rapidly rising year after year. Monogenic obesity is a special one among all types of obesity because it is caused by the mutation of a single gene. With the development of molecular biology and many other technologies, a dozen of genes which play a critical role in monogenic obesity have been found now. In this paper, we reviewed these genes, their mutation sites, and the molecular pathogenic mechanism in monogenic obesity. 【Key words 】 obesity; mutation; gene This work was supported by the National Natural Science Foundation of China , the Shanghai Rising Star Program (12QH1401700) and the Sixth College Students