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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Format: | Article |
Language: | English |
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Taylor & Francis Group
2024-12-01
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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. |
format | Article |
id | doaj-art-fbc1e5e5f4c84d3490962d7e2ca7226e |
institution | Kabale University |
issn | 2162-3945 2162-397X |
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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