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单基因肥胖症在多因素疾病中的最新研究进展。

Updates on Monogenic Obesity in a Multifactorial Disease.

机构信息

College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.

Center for Advanced Surgical Technology, University of Nebraska Medical Center, Omaha, NE, USA.

出版信息

Obes Surg. 2019 Dec;29(12):4077-4083. doi: 10.1007/s11695-019-04200-z.

Abstract

Obesity is a worldwide epidemic with rates nearly doubling over the last 30 years. Despite increasing prevalence, the multifactorial pathogenesis of obesity continues to be widely misunderstood. Investigating genetic drivers in the development of obesity is an important area of focus, as genetics move to the forefront of medicine and personalized treatment evolves. Thus, this narrative review focused on four genes which have genome-wide association study-documented links to obesity and obesity syndromes. We explored their involvement in the predisposition, progression, and prognosis of obesity. Leptin, leptin receptor, pro-opiomelanocortin, and melanocortin 4 receptor are our four genes of interest, and herein we elaborated on the current literature, pathogenesis, and available treatments for patients with these specific genetic mutations.

摘要

肥胖是一种全球性的流行疾病,在过去 30 年中,其发病率几乎翻了一番。尽管肥胖的患病率不断上升,但肥胖的多因素发病机制仍广泛被误解。研究肥胖发展过程中的遗传驱动因素是一个重要的关注领域,因为遗传学正在成为医学的前沿领域,个性化治疗也在不断发展。因此,本综述性文章重点关注了四个与肥胖和肥胖综合征具有全基因组关联研究关联的基因。我们探讨了它们在肥胖的易感性、进展和预后中的作用。瘦素、瘦素受体、前阿黑皮素原和黑素皮质素 4 受体是我们感兴趣的四个基因,本文详细阐述了这些特定基因突变患者的现有文献、发病机制和治疗方法。

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