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葡萄糖稳态和肥胖的新靶点——罕见突变的启示。

Novel Targets in Glucose Homeostasis and Obesity-Lesson from Rare Mutations.

机构信息

Pennington Biomedical Research Center, Brain Glycemic And Metabolism Control Department, Louisiana State University, 6400 Perkins Rd, Basic Science Building L2024, Baton Rouge, LA, 70808, USA.

The Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, The University of Illinois at Chicago, Chicago, IL, 60612, USA.

出版信息

Curr Diab Rep. 2020 Oct 31;20(11):66. doi: 10.1007/s11892-020-01351-7.

Abstract

PURPOSE OF REVIEW

Obesity and diabetes have already become the second largest risk factor for cardiovascular disease. During the last decade, remarkable advances have been made in understanding the human genome's contribution to glucose homeostasis disorders and obesity. A few studies on rare mutations of candidate genes provide potential genetic targets for the treatment of diabetes and obesity. In this review, we discussed the detailed findings of these studies and the possible causalities between specific genetic variations and dysfunctions in energy or glucose homeostasis. We are optimistic that novel therapeutic strategies targeting these specific mutants for treating and preventing diabetes and obesity will be developed in the near future.

RECENT FINDINGS

Studies on rare genetic mutation-caused obesity or diabetes have identified potential genetic targets to decrease body weight or reduce the risk of diabetes. Rare mutations observed in lipodystrophy, obese, or diabetic human patients are promising targets in the treatment of diabetes and obesity.

摘要

目的综述

肥胖症和糖尿病已成为心血管疾病的第二大主要风险因素。在过去十年中,人们对人类基因组在葡萄糖稳态紊乱和肥胖症中的作用有了显著的认识。一些关于候选基因罕见突变的研究为糖尿病和肥胖症的治疗提供了潜在的遗传靶点。在这篇综述中,我们讨论了这些研究的详细发现,以及特定遗传变异与能量或葡萄糖稳态功能障碍之间的可能因果关系。我们乐观地认为,针对这些特定突变体的新型治疗策略将在不久的将来被开发出来,用于治疗和预防糖尿病和肥胖症。

最新发现

对由罕见基因突变引起的肥胖症或糖尿病的研究已经确定了潜在的遗传靶点,可以减轻体重或降低糖尿病的风险。在脂肪营养不良、肥胖或糖尿病患者中观察到的罕见突变是治疗糖尿病和肥胖症的有希望的靶点。

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