Lipodystrophy-associated progeroid syndromes

Hormones (Athens). 2022 Dec;21(4):555-571. doi: 10.1007/s42000-022-00386-7. Epub 2022 Jul 15.

Abstract

With the exception of HIV-associated lipodystrophy, lipodystrophy syndromes are rare conditions characterized by a lack of adipose tissue, which is not generally recovered. As a consequence, an ectopic deposition of lipids frequently occurs, which usually leads to insulin resistance, atherogenic dyslipidemia, and hepatic steatosis. These disorders include certain accelerated aging syndromes or progeroid syndromes. Even though each of them has unique clinical features, most show common clinical characteristics that affect growth, skin and appendages, adipose tissue, muscle, and bone and, in some of them, life expectancy is reduced. Although the molecular bases of these Mendelian disorders are very diverse and not well known, genomic instability is frequent as a consequence of impairment of nuclear organization, chromatin structure, and DNA repair, as well as epigenetic dysregulation and mitochondrial dysfunction. In this review, the main clinical features of the lipodystrophy-associated progeroid syndromes will be described along with their causes and pathogenic mechanisms, and an attempt will be made to identify which of López-Otín's hallmarks of aging are present.

Keywords: Dysmorphoplogy; Early aging; Genome instability; Laminopathies; Lipodystrophy; Progeria.

Publication types

  • Review

MeSH terms

  • Aging
  • Humans
  • Insulin Resistance*
  • Lipodystrophy* / complications
  • Lipodystrophy* / genetics
  • Progeria* / complications
  • Progeria* / genetics
  • Syndrome