Genetics of Lipodystrophy

Overview

Journal Endocrinol Metab Clin North Am

Publisher Elsevier

Specialty Endocrinology

Date 2017 May 7

PMID 28476236

Citations 26

Authors

Marissa Lightbourne

Rebecca J Brown

Affiliations

Soon will be listed here.

Abstract

Lipodystrophy disorders are characterized by selective loss of fat tissue with metabolic complications including insulin resistance, hypertriglyceridemia, and nonalcoholic liver disease. These complications can be life-threatening, affect quality of life, and result in increased health care costs. Genetic discoveries have been particularly helpful in understanding the pathophysiology of these diseases, and have shown that mutations affect pathways involved in adipocyte differentiation and survival, lipid droplet formation, and lipid synthesis. In addition, genetic testing can identify patients whose phenotypes are not clearly apparent, but who may still be affected by severe metabolic complications.

Citing Articles

Exploring lipodystrophy gene expression in adipocytes: unveiling insights into the pathogenesis of insulin resistance, type 2 diabetes, and clustering diseases (metabolic syndrome) in Asian Indians.

Saxena A, Tiwari P, Gupta S, Mandia R, Banshiwal R, Lamoria R Front Endocrinol (Lausanne). 2024; 15:1468824.

PMID: 39444451 PMC: 11496143. DOI: 10.3389/fendo.2024.1468824.

Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma.

Bhattacharya S, Pappachan J World J Diabetes. 2024; 15(6):1051-1059.

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Systems genetics analysis of human body fat distribution genes identifies adipocyte processes.

Reed J, Huang J, Li Y, Ma L, Banka D, Wabitsch M Life Sci Alliance. 2024; 7(7.

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Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.

Al Yaarubi S, Alsagheir A, Al Shidhani A, Alzelaye S, Alghazir N, Brema I Orphanet J Rare Dis. 2024; 19(1):118.

PMID: 38481246 PMC: 10935864. DOI: 10.1186/s13023-024-03084-2.

The role of lipid droplet associated proteins in inherited human disorders.

Duan X, Savage D FEBS Lett. 2023; 598(10):1205-1206.

PMID: 38016936 PMC: 7617339. DOI: 10.1002/1873-3468.14779.

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