Progerin, an Aberrant Spliced Form of Lamin A, Is a Potential Therapeutic Target for HGPS

Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder caused by the mutant protein progerin, which is expressed by the abnormal splicing of the LMNA gene. HGPS affects systemic levels, with the exception of cognition or brain development, in children, showing that cellula...

Full description

Saved in:
Bibliographic Details
Published in:Cells (Basel, Switzerland) Switzerland), 2023-09, Vol.12 (18), p.2299
Main Authors: Kim, Bae-Hoon, Chung, Yeon-Ho, Woo, Tae-Gyun, Kang, So-Mi, Park, Soyoung, Park, Bum-Joon
Format: Article
Language:English
Subjects:
Aging
Amino acids
Clinical trials
Cognition
Disease
DNA damage
DNA methylation
Drug targeting
Drug therapy
Fibroblasts
Gene expression
Genetic disorders
Genotype & phenotype
Health aspects
Hutchinson–Gilford progeria syndrome
Intermediate filament proteins
Methods
Mutation
Neurological diseases
nuclear lamina
Patients
Progeria
progerin
Proteins
Quality of life
Review
Senescence
Telomerase
Therapeutic targets
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder caused by the mutant protein progerin, which is expressed by the abnormal splicing of the LMNA gene. HGPS affects systemic levels, with the exception of cognition or brain development, in children, showing that cellular aging can occur in the short term. Studying progeria could be useful in unraveling the causes of human aging (as well as fatal age-related disorders). Elucidating the clear cause of HGPS or the development of a therapeutic medicine could improve the quality of life and extend the survival of patients. This review aimed to (i) briefly describe how progerin was discovered as the causative agent of HGPS, (ii) elucidate the puzzling observation of the absence of primary neurological disease in HGPS, (iii) present several studies showing the deleterious effects of progerin and the beneficial effects of its inhibition, and (iv) summarize research to develop a therapy for HGPS and introduce clinical trials for its treatment.
ISSN:2073-4409
2073-4409
DOI:10.3390/cells12182299