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脂肪营养不良的遗传学:它能否帮助理解代谢综合征的病理生理学?

Genetics of Lipodystrophy: Can It Help in Understanding the Pathophysiology of Metabolic Syndrome?

机构信息

Sawai Man Singh Medical College and Hospital, JLN Marg, Jaipur 302004, India.

Department of Biotechnology and Bioinformatics, Birla Institute of Scientific Research, Statue Circle, Jaipur 302001, India.

出版信息

Biomolecules. 2018 Jul 6;8(3):47. doi: 10.3390/biom8030047.

Abstract

Understanding phenotypes and their genetic determinants for metabolic syndrome (MetS) has been quite challenging. With the advent of systems genomic approaches, there is a need to decipher methods for identification and evaluating the functional role of phenotypic traits associated with complex diseases, such as MetS. The monogenic syndromes of lipodystrophy are well understood, but the molecular pathophysiology of insulin resistance (IR) underpinning the obesity, diabetes mellitus, and dyslipidemia is not well deciphered. In this commentary, we argue the role of pathophysiology of MetS, and its effects into possible understanding of genetic determinants associated with lipodystrophy-mediated diabetes mellitus.

摘要

理解代谢综合征 (MetS) 的表型及其遗传决定因素一直颇具挑战性。随着系统基因组方法的出现,需要阐明识别和评估与复杂疾病(如 MetS)相关的表型特征的功能作用的方法。脂肪营养不良的单基因综合征已得到很好的理解,但肥胖、糖尿病和血脂异常所隐含的胰岛素抵抗 (IR) 的分子病理生理学尚不清楚。在这篇评论中,我们讨论了 MetS 的病理生理学的作用,及其对可能与脂肪营养不良介导的糖尿病相关的遗传决定因素的理解的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f41/6163883/434f2402b719/biomolecules-08-00047-g001.jpg

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