Lipodystrophy-associated progeroid syndromes.
Dysmorphoplogy
Early aging
Genome instability
Laminopathies
Lipodystrophy
Progeria
Journal
Hormones (Athens, Greece)
ISSN: 2520-8721
Titre abrégé: Hormones (Athens)
Pays: Switzerland
ID NLM: 101142469
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
received:
13
03
2022
accepted:
29
06
2022
pubmed:
15
7
2022
medline:
3
12
2022
entrez:
14
7
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35835948
doi: 10.1007/s42000-022-00386-7
pii: 10.1007/s42000-022-00386-7
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
555-571Informations de copyright
© 2022. The Author(s), under exclusive licence to Hellenic Endocrine Society.
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