单基因人类肥胖症

Monogenic human obesity.

作者信息

Farooqi I Sadaf

机构信息

Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK.

出版信息

Front Horm Res. 2008;36:1-11. doi: 10.1159/000115333.

DOI:10.1159/000115333

PMID:18230891

Abstract

We and others have identified several single gene defects that disrupt the molecules in the leptinmelanocortin pathway causing severe obesity in humans. In this review, we consider these human monogenic obesity syndromes and discuss how far the characterisation of these patients has informed our understanding of the physiological role of leptin and the melanocortins in the regulation of human body weight and neuroendocrine function.

摘要

我们和其他研究人员已经确定了几种单基因缺陷，这些缺陷会破坏瘦素-促黑素细胞激素通路中的分子，从而导致人类严重肥胖。在这篇综述中，我们将探讨这些人类单基因肥胖综合征，并讨论对这些患者的特征描述在多大程度上增进了我们对瘦素和促黑素细胞激素在调节人体体重和神经内分泌功能中的生理作用的理解。