Hiuge Aki, Kihara Shinji
Department of Metabolic Medicine, Graduate School of Medicine, Osaka University.
Nihon Rinsho. 2009 Feb;67(2):266-9.
Human gene mutations and polymorphisms of adipocytokines, adipocyte-derived bioactive molecules, have been reported to be implicated in the pathogenesis of obesity. Leptin and its receptor gene mutations are well-established in the development of severe obesity. Among early onset severe obese patients, the prevalence of various leptin-receptor gene mutations was about 3%. The polymorphisms of adiponectin, another important adipocytokine with anti-atherogenic and anti-diabetic properties, are reported to associate with the pathophysiology but not with the severity of obesity. Adipocytokine dysregulation due to lifestyle-mediated obesity would be common at this stage, although further study of adipocytokine mutation should be necessary.
据报道，人类基因中脂肪细胞因子（源自脂肪细胞的生物活性分子）的突变和多态性与肥胖症的发病机制有关。瘦素及其受体基因突变在严重肥胖症的发展过程中已得到充分证实。在早发性严重肥胖患者中，各种瘦素受体基因突变的发生率约为3%。脂联素是另一种具有抗动脉粥样硬化和抗糖尿病特性的重要脂肪细胞因子，据报道其多态性与病理生理学有关，但与肥胖症的严重程度无关。尽管有必要对脂肪细胞因子突变进行进一步研究，但在这个阶段，由生活方式介导的肥胖导致的脂肪细胞因子失调可能很常见。
