RT Journal Article
T1 Small-Molecule Therapeutic Perspectives for the Treatment of Progeria
A1 Macicior Michelena, Jon
A1 Marcos Ramiro, Beatriz
A1 Ortega Gutiérrez, Silvia
AB Hutchinson–Gilford progeria syndrome (HGPS), or progeria, is an extremely rare disorder that belongs to the class of laminopathies, diseases characterized by alterations in the genes that encode for the lamin proteins or for their associated interacting proteins. In particular, progeria is caused by a point mutation in the gene that codifies for the lamin A gene. This mutation ultimately leads to the biosynthesis of a mutated version of lamin A called progerin, which accumulates abnormally in the nuclear lamina. This accumulation elicits several alterations at the nuclear, cellular, and tissue levels that are phenotypically reflected in a systemic disorder with important alterations, mainly in the cardiovascular system, bones, skin, and overall growth, which results in premature death at an average age of 14.5 years. In 2020, lonafarnib became the first (and only) FDA approved drug for treating progeria. In this context, the present review focuses on the different therapeutic strategies currently under development, with special attention to the new small molecules described in recent years, which may represent the upcoming first-in-class drugs with new mechanisms of action endowed with effectiveness not only to treat but also to cure progeria.
PB MDPI
SN 1422-0067
YR 2021
FD 2021
LK https://hdl.handle.net/20.500.14352/7471
UL https://hdl.handle.net/20.500.14352/7471
LA eng
NO The Progeria Research Foundation
NO Ministerio de Ciencia e Innovación
DS Docta Complutense
RD 4 sept 2025