Gotoda Takanari
Department of Clinical and Molecular Epidemiology, 22nd Medical Research Center, The University of Tokyo Hospital.
Nihon Rinsho. 2009 Feb;67(2):259-65.
Although the recent pandemic of obesity is apparently driven by environmental factors, the influence of genetic factors has also increasingly been recognized. Monogenic inheritance of obesity has been documented in several human disorders and some of their etiological basis has been elucidated at the molecular level. The frequency of these monogenic diseases is generally very rare, but their elucidation gives an important insight into our understanding of the molecular basis of the more common form of human obesity. In fact, the identification of rare mutations in the genes for ligands and receptors of the leptin-melanocortin pathway established that the pathway is physiologically essential for normal homeostasis of food intake and energy expenditure.
尽管近期肥胖症的流行显然是由环境因素驱动的，但遗传因素的影响也越来越受到认可。在几种人类疾病中已记录到肥胖的单基因遗传，并且其中一些疾病的病因基础已在分子水平上得到阐明。这些单基因疾病的发生率通常非常低，但其阐明为我们理解人类更常见肥胖形式的分子基础提供了重要的见解。事实上，在瘦素 - 促黑素皮质素途径的配体和受体基因中发现罕见突变，证实了该途径对于食物摄入和能量消耗的正常体内平衡在生理上是必不可少的。
