Stefan Mihaela, Nicholls Robert D
Department of Psychiatry, University of Pennsylvania, Clinical Research Building, Room 528, 415 Curie Boulevard, Philadelphia, PA 19104-6140, USA.
Curr Diab Rep. 2004 Apr;4(2):143-50. doi: 10.1007/s11892-004-0070-0.
Obesity is a central feature for several congenital syndromes, including Prader-Willi, Angelman, Bardet-Biedl, Cohen, Alström, and Börjeson-Forssman-Lehmann syndromes, and Albright's hereditary osteodystrophy. Although a role for the central nervous system, including the hypothalamus-pituitary axis, has been suggested for the etiology of obesity in these syndromes, the pathophysiologic pathways are as yet not well defined, and in many cases may identify currently unknown mechanisms. Nevertheless, many of the causative genes and unusual mechanisms, including parental imprinting of genes and complex patterns of inheritance, have been identified. We review the latest advances in understanding congenital syndromes in which obesity is purely genetic, drawing on comparisons to genetic studies of obesity in the human population as well as to those in experimental and agricultural animal models. An understanding of the genetic basis for these syndromes will provide a more comprehensive picture of the mechanisms that control food intake and energy balance in humans.
肥胖是几种先天性综合征的主要特征，包括普拉德-威利综合征、安吉尔曼综合征、巴德-比德尔综合征、科恩综合征、阿尔斯特伦综合征、博耶森-福斯曼-莱曼综合征以及奥尔布赖特遗传性骨营养不良。尽管有人提出中枢神经系统（包括下丘脑-垂体轴）在这些综合征所致肥胖的病因中起作用，但病理生理途径尚未明确界定，而且在许多情况下可能揭示目前未知的机制。然而，已经确定了许多致病基因和异常机制，包括基因的亲本印记和复杂的遗传模式。我们借鉴对人类肥胖基因研究以及实验和农业动物模型中肥胖基因研究的比较，综述了对纯遗传性肥胖先天性综合征认识的最新进展。了解这些综合征的遗传基础将更全面地呈现控制人类食物摄入和能量平衡的机制。
