Lechleitner M, Hoppichler F
Universitätsklinik für Innere Medizin, Innsbruck.
Acta Med Austriaca. 1998;25(4-5):129-30.
Previous studies with twins had demonstrated that heredity exerts a definite impact on the development of overweight even more than environmental conditions of nutrition. In recent years studies of molecular genetics in imbred obese mice lead to the discovery of the ob-gene coding for the expression of the ob-protein (leptin) in adipose tissue. Mutation of this gene and also of other genes coding for the expression of receptor proteines for leptin were also discovered in obese mice. In humans, however, mutations of the ob-gene were found only in a few families with hereditary obesity obviously as rarities as compared to a huge number of overweight people with high leptin of normal structure in western societies. About the molecular structure of leptin receptors or its possible mutation in obesity are no human results are available at the present time. In this survey further observations about genetics and mutations of transmitters regulating feeding and for energy expenditure are reported. Although all these results come from animals it may be presumed that they will provide an experimental basis for a better understanding of genetic mechanisms leading to obesity in humans and also for future development of drugs interfering with these mechanisms thus offering a chance for medical treatment of obesity.
以往对双胞胎的研究表明，遗传因素对超重的发展产生的影响甚至超过营养方面的环境条件。近年来，对近交系肥胖小鼠的分子遗传学研究发现了ob基因，该基因编码脂肪组织中ob蛋白（瘦素）的表达。在肥胖小鼠中还发现了该基因以及其他编码瘦素受体蛋白表达的基因的突变。然而，在人类中，仅在少数患有遗传性肥胖症的家庭中发现了ob基因的突变，与西方社会中大量瘦素结构正常但超重的人相比，这种情况显然极为罕见。目前尚无关于瘦素受体分子结构或其在肥胖症中可能发生的突变的人类研究结果。在本次综述中，报告了关于调节进食和能量消耗的递质的遗传学和突变的进一步观察结果。尽管所有这些结果都来自动物，但可以推测，它们将为更好地理解导致人类肥胖的遗传机制提供实验依据，也为未来开发干扰这些机制的药物提供依据，从而为肥胖症的医学治疗提供机会。
