Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities.

IF 3.5 4区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Adipocyte Pub Date : 2024-12-01 Epub Date: 2024-09-27 DOI:10.1080/21623945.2024.2403380
Sami N Al Harake, Yasamin Abedin, Fatema Hatoum, Nour Zahraa Nassar, Ali Ali, Aline Nassar, Amjad Kanaan, Samer Bazzi, Sami Azar, Frederic Harb, Hilda E Ghadieh
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引用次数: 0

Abstract

Lipid droplets (LDs) are highly specialized energy storage organelles involved in the maintenance of lipid homoeostasis by regulating lipid flux within white adipose tissue (WAT). The physiological function of adipocytes and LDs can be compromised by mutations in several genes, leading to NEFA-induced lipotoxicity, which ultimately manifests as metabolic complications, predominantly in the form of dyslipidemia, ectopic fat accumulation, and insulin resistance. In this review, we delineate the effects of mutations and deficiencies in genes - CIDEC, PPARG, BSCL2, AGPAT2, PLIN1, LIPE, LMNA, CAV1, CEACAM1, and INSR - involved in lipid droplet metabolism and their associated pathophysiological impairments, highlighting their roles in the development of lipodystrophies and metabolic dysfunction.

脂滴病理生理学和相关并发症中的一系列研究基因的参与。
脂滴(LDs)是高度特化的储能细胞器,通过调节白脂肪组织(WAT)内的脂质通量来维持脂质平衡。脂肪细胞和 LDs 的生理功能可因多个基因突变而受损,导致 NEFA 诱导的脂肪毒性,最终表现为代谢并发症,主要表现为血脂异常、异位脂肪堆积和胰岛素抵抗。在这篇综述中,我们阐述了参与脂滴代谢的 CIDEC、PPARG、BSCL2、AGPAT2、PLIN1、LIPE、LMNA、CAV1、CEACAM1 和 INSR 基因突变和缺失的影响及其相关的病理生理学损伤,强调了它们在脂肪营养不良和代谢功能障碍的发生中的作用。
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来源期刊
Adipocyte
Adipocyte Medicine-Histology
CiteScore
6.50
自引率
3.00%
发文量
46
审稿时长
32 weeks
期刊介绍: Adipocyte recognizes that the adipose tissue is the largest endocrine organ in the body, and explores the link between dysfunctional adipose tissue and the growing number of chronic diseases including diabetes, hypertension, cardiovascular disease and cancer. Historically, the primary function of the adipose tissue was limited to energy storage and thermoregulation. However, a plethora of research over the past 3 decades has recognized the dynamic role of the adipose tissue and its contribution to a variety of physiological processes including reproduction, angiogenesis, apoptosis, inflammation, blood pressure, coagulation, fibrinolysis, immunity and general metabolic homeostasis. The field of Adipose Tissue research has grown tremendously, and Adipocyte is the first international peer-reviewed journal of its kind providing a multi-disciplinary forum for research focusing exclusively on all aspects of adipose tissue physiology and pathophysiology. Adipocyte accepts high-profile submissions in basic, translational and clinical research.
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