The Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Clin Genet. 2010 Jan;77(1):18-27. doi: 10.1111/j.1399-0004.2009.01305.x. Epub 2009 Nov 20.
Obesity associates with increased health risks such as heart disease, stroke and diabetes. The steady rise in the obese population worldwide poses an increasing burden on health systems. Genetic factors contribute to the development of obesity, and the elucidation of their physiological functions helps to understand the cause, and improve the prevention, diagnosis and treatment for this disorder. Primary cilia are evolutionarily conserved organelles whose dysfunctions lead to human disorders now defined as ciliopathies. Human ciliopathies present pleiotropic and overlapping phenotypes that often include retinal degeneration, cystic renal anomalies and obesity. Increasing evidence implicates an intriguing involvement of cilia in lipid/energy homeostasis. Here we discuss recent studies in support of the key roles of ciliary genes in the development and pathology of obesity in various animal models. Genes affecting ciliary development and function may pose promising candidate underlying genetic factors that contribute to the development of common obesity.
肥胖与心脏病、中风和糖尿病等健康风险增加有关。全球肥胖人口的稳步增加给卫生系统带来了越来越大的负担。遗传因素导致肥胖的发生，阐明其生理功能有助于了解病因，并改善这种疾病的预防、诊断和治疗。原发性纤毛是进化上保守的细胞器，其功能障碍导致现在被定义为纤毛病的人类疾病。人类纤毛病表现出多效性和重叠的表型，通常包括视网膜变性、囊性肾异常和肥胖。越来越多的证据表明，纤毛在脂质/能量平衡中具有有趣的作用。在这里，我们讨论了最近的研究，这些研究支持了纤毛基因在各种动物模型中肥胖的发生和病理中的关键作用。影响纤毛发育和功能的基因可能是导致常见肥胖的潜在遗传因素的有希望的候选基因。
