Molecular and Cellular Bases of Lipodystrophy Syndromes

Front Endocrinol (Lausanne). 2022 Jan 3;12:803189. doi: 10.3389/fendo.2021.803189.

PMID: 35046902

Jamila Zammouri, Camille Vatier, Emilie Capel

Highlights: In this study, the links between lipodystrophy and premature ageing and/or immuno-inflammatory aggressions of adipose tissue, as well as the relationships between lipomatosis and lipodystrophy are discussed.

Abstract

Background: Lipodystrophy syndromes are rare disorders caused by a loss of adipose tissue that can be whole or partial. Insulin resistance, diabetes, hypertriglyceridemia, nonalcoholic fatty liver disease, gonadotropic axis dysfunctions, and endocrine defects of adipose tissue with leptin and adiponectin deficiency are all metabolic complications of adipose tissue dysfunction, which can be caused by a variety of genetic or acquired causes. Diagnosis is critical for tailoring medical therapy and genetic counseling. It is based on clinical and metabolic investigations, as well as genetic analysis. Alterations in adipocyte differentiation, structure and/or regulation of the adipocyte lipid droplet, and/or early cellular senescence are among the molecular and cellular bases of these disorders. Lipodystrophy syndromes are typically seen as multi-tissue systemic diseases.

Objective: This study will focus on topics that have recently appeared in the area after an update on the primary molecular bases and clinical forms of lipodystrophy. It is highlighted how lipodystrophy is linked to premature aging and/or adipose tissue immuno-inflammatory aggressions, as well as how lipomatosis and lipodystrophy are related. Finally, the indications for substitutive therapy with metreleptin, a leptin analog that is approved in Europe and the United States, will be discussed.

Keywords: adipose tissue, diabetes, genetics, immunity, insulin resistance, lipodystrophy, lipomatosis, senescence