期刊文献+

单基因肥胖症的遗传机制和治疗 被引量:1

Genetic mechanism of monogenetic obesity
暂未订购
导出
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。 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.
出处 《中华老年多器官疾病杂志》 2014年第2期157-160,共4页 Chinese Journal of Multiple Organ Diseases in the Elderly
基金 国家自然科学基金(81170735,81200582) 上海市科技启明星跟踪计划(12QH1401700) 上海交通大学医学院第六期大学生创新性实验
关键词 肥胖症 突变 基因 obesity mutation gene
  • 相关文献

参考文献23

  • 1Padwal RS, Majumdar SR. Drug treatments for obesity: orlistat, sibutramine, and rimonabant[J]. Lancet, 2007, 369(9555): 71-77.
  • 2Barsh GS, Farooqi IS, O'Rahilly S. Genetics of body-weight regulation[J]. Nature, 2000, 404(6778): 644-651.
  • 3Mountjoy KG, Mortrud MT, Low MJ, et al. Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain[J]. Mol Endocrinol, 1994, 8(10): 1298-1308.
  • 4Yeo GS, Farooqi IS, Aminian S, et al. A frameshift mutation in MC4R associated with dominantly inherited human obesity[J]. Nat Genet, 1998, 20(2): 111-112.
  • 5Froguel P. Boutin P. Genetics of pathways regulating body weight in the development of obesity in humans[J]. Exp Biol Med (Maywood), 2001, 226(11): 991-996.
  • 6Tan K, Pogozheva ID, Yeo GS, et al. Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor[J]. Endocrinology, 2009, 150(1): 114-125.
  • 7Beckers S, Zegers D, de Freitas F, et al. Identification and functional characterization of novel mutations in the melanocortin-4 receptor[J]. Obes Facts, 2010, 3(5): 304-311.
  • 8Granell S, Serra-Juhe C, Martos-Moreno GA, et al. A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding[J] PLoS One, 2012, 7(12): e50894.
  • 9Aotani D, Ebihara K, Sawamoto N, et al. Functional magnetic resonance imaging analysis of food-related brain activity in patients with lipodystrophy undergoing leptin replacement therapy[J]. J Clin Endocrinol Metab, 2012, 97(10): 3663-3671.
  • 10Ingalls AM, Dickie MM, Snell GD. Obese, a new mutation in the house mouse[J]. J Hered, 1950, 41(12): 317-318.

同被引文献4

引证文献1

二级引证文献3

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部