Hutchinson-Gilford Progeria Syndrome: Cellular Mechanisms and Therapeutic Perspectives

In humans, aging is characterized by a gradual decline of physical and psychological functions, with the concomitant onset of chronic-degenerative diseases, which ultimately lead to death. The study of Hutchinson-Gilford progeria syndrome (HGPS), a premature aging disorder that recapitulates several...

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Published in:Archives of medical research 2023-07, Vol.54 (5), p.102837-102837, Article 102837
Main Authors: Cisneros, Bulmaro, García-Aguirre, Ian, De Ita, Marlon, Arrieta-Cruz, Isabel, Rosas-Vargas, Haydeé
Format: Article
Language:English
Subjects:
Accelerated aging
Aging hallmarks
HGPS therapy
Hutchinson-Gilford progeria syndrome (HGPS)
Lamin A
Progerin
Rare diseases
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Summary:In humans, aging is characterized by a gradual decline of physical and psychological functions, with the concomitant onset of chronic-degenerative diseases, which ultimately lead to death. The study of Hutchinson-Gilford progeria syndrome (HGPS), a premature aging disorder that recapitulates several features of natural aging, has provided important insights into deciphering the aging process. The genetic origin of HGPS is a de novo point mutation in the LMNA gene that drives the synthesis of progerin, mutant version of lamin A. Progerin is aberrantly anchored to the nuclear envelope disrupting a plethora of molecular processes; nonetheless, how progerin exerts a cascade of deleterious alterations at the cellular and systemic levels is not fully understood. Over the past decade, the use of different cellular and animal models for HGPS has allowed the identification of the molecular mechanisms underlying HGPS, paving the way towards the development of therapeutic treatments against the disease. In this review, we present an updated overview of the biology of HGPS, including its clinical features, description of key cellular processes affected by progerin (nuclear morphology and function, nucleolar activity, mitochondrial function, protein nucleocytoplasmic trafficking and telomere homeostasis), as well as discussion of the therapeutic strategies under development.
ISSN:0188-4409
1873-5487
DOI:10.1016/j.arcmed.2023.06.002