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

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-induc...

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Main Authors: 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
Format: Article
Language:English
Published: Taylor & Francis Group 2024-12-01
Series:Adipocyte
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Online Access:https://www.tandfonline.com/doi/10.1080/21623945.2024.2403380
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author 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
author_facet 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
author_sort Sami N. Al Harake
collection DOAJ
description 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.
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institution Kabale University
issn 2162-3945
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language English
publishDate 2024-12-01
publisher Taylor & Francis Group
record_format Article
series Adipocyte
spelling doaj-art-fbc1e5e5f4c84d3490962d7e2ca7226e2024-12-09T07:23:11ZengTaylor & Francis GroupAdipocyte2162-39452162-397X2024-12-0113110.1080/21623945.2024.2403380Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbiditiesSami N. Al Harake0Yasamin Abedin1Fatema Hatoum2Nour Zahraa Nassar3Ali Ali4Aline Nassar5Amjad Kanaan6Samer Bazzi7Sami Azar8Frederic Harb9Hilda E. GhadiehDepartment of Biomedical Sciences, Faculty of Medicine and Medical Sciences, University of Balamand, Kalhat, LebanonDepartment of Biomedical Sciences, Faculty of Medicine and Medical Sciences, University of Balamand, Kalhat, LebanonDepartment of Biomedical Sciences, Faculty of Medicine and Medical Sciences, University of Balamand, Kalhat, LebanonDepartment of Biomedical Sciences, Faculty of Medicine and Medical Sciences, University of Balamand, Kalhat, LebanonDepartment of Biomedical Sciences, Faculty of Medicine and Medical Sciences, University of Balamand, Kalhat, LebanonDepartment of Biomedical Sciences, Faculty of Medicine and Medical Sciences, University of Balamand, Kalhat, LebanonDepartment of Biomedical Sciences, Faculty of Medicine and Medical Sciences, University of Balamand, Kalhat, LebanonDepartment of Biomedical Sciences, Faculty of Medicine and Medical Sciences, University of Balamand, Kalhat, LebanonDepartment of Biomedical Sciences, Faculty of Medicine and Medical Sciences, University of Balamand, Kalhat, LebanonDepartment of Biomedical Sciences, Faculty of Medicine and Medical Sciences, University of Balamand, Kalhat, LebanonLipid 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.https://www.tandfonline.com/doi/10.1080/21623945.2024.2403380Lipid droplet formationadipogenesislipid droplet hydrolysislipodystrophyinsulin resistance
spellingShingle 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
Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities
Adipocyte
Lipid droplet formation
adipogenesis
lipid droplet hydrolysis
lipodystrophy
insulin resistance
title Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities
title_full Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities
title_fullStr Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities
title_full_unstemmed Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities
title_short Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities
title_sort involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities
topic Lipid droplet formation
adipogenesis
lipid droplet hydrolysis
lipodystrophy
insulin resistance
url https://www.tandfonline.com/doi/10.1080/21623945.2024.2403380
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