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Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis
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Journal Article
Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis
2019
Overview
Hutchinson–Gilford progeria syndrome (HGPS) is a rare pathology caused by a specific mutation (
c
.1824C>T;
p
.G608G) in the
LMNA
gene (Eriksson
et al
,
2003
). In healthy conditions,
LMNA
encodes lamins A and C, two major structural nuclear proteins. The mutation creates a splice site in exon 11, resulting in ubiquitous expression of progerin, an aberrant lamin A precursor. Mutations of
LMNA
can cause laminopathies, a group of diseases with a wide spectrum of, often overlapping, tissue‐specific phenotypes. HGPS is probably one of the most devastating forms of laminopathy. Affected patients display signs of accelerated aging, such as lack of subcutaneous fat, hair loss, joint contractures, and skin thinning, and usually die prematurely from cardiovascular complications. Atherosclerosis is one of the most severe and clinically relevant features of HGPS, manifesting in the absence of classical risk factors, such as increased low‐density lipoprotein and C‐reactive protein (Gordon
et al
,
2005
). In this issue, Hamczyk
et al
(
2019
) describe a mechanism for HGPS‐related atherosclerosis.
Graphical Abstract
G. Condorelli and E. Di Pasquale highlight the work of Hamczyk
et al
(in this issue of
EMBO Molecular Medicine
) describing a mechanism for Hutchinson Gilford Progeria Syndrome (HGPS)‐related atherosclerosis, one of the most severe and clinically relevant features of HGPS.
