Please use this identifier to cite or link to this item: https://scholarhub.balamand.edu.lb/handle/uob/7612
Title: Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities
Authors: Al Harake, Sami N
Abedin, Yasamin
Hatoum, Fatema
Nassar, Nour Zahraa
Ali, Ali
Nassar, Aline 
Kanaan, Amjad 
Bazzi, Samer 
Azar, Sami 
Harb, Frederic 
Ghadieh, Hilda 
Affiliations: Faculty of Medicine 
Faculty of Medicine 
Faculty of Medicine 
Faculty of Medicine 
Faculty of Medicine 
Faculty of Medicine 
Keywords: Lipid droplet formation
Adipogenesis
Insulin resistance
Lipid droplet hydrolysis
Lipodystrophy
Issue Date: 2024-12
Publisher: Taylor and Francis Ltd.
Part of: Adipocyte
Volume: 13
Issue: 1
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.
URI: https://scholarhub.balamand.edu.lb/handle/uob/7612
ISSN: 21623945
DOI: 10.1080/21623945.2024.2403380
Open URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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