Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis
Abstract 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 exo...
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| Format: | Article |
| Language: | English |
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Springer Nature
2019-03-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.15252/emmm.201910360 |
| _version_ | 1827015103535382528 |
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| author | Elisa Di Pasquale Gianluigi Condorelli |
| author_facet | Elisa Di Pasquale Gianluigi Condorelli |
| author_sort | Elisa Di Pasquale |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-03-07T17:07:39Z |
| format | Article |
| id | doaj.art-3747fd9d90ae4ce59f3b5fab1051a043 |
| institution | Directory Open Access Journal |
| issn | 1757-4676 1757-4684 |
| language | English |
| last_indexed | 2025-02-18T14:17:45Z |
| publishDate | 2019-03-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj.art-3747fd9d90ae4ce59f3b5fab1051a0432024-10-28T08:57:14ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842019-03-011141310.15252/emmm.201910360Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosisElisa Di Pasquale0Gianluigi Condorelli1Institute of Genetic and Biomedical Research (IRGB) – Milan Unit, National Research CouncilInstitute of Genetic and Biomedical Research (IRGB) – Milan Unit, National Research CouncilAbstract 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.https://doi.org/10.15252/emmm.201910360 |
| spellingShingle | Elisa Di Pasquale Gianluigi Condorelli Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis EMBO Molecular Medicine |
| title | Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis |
| title_full | Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis |
| title_fullStr | Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis |
| title_full_unstemmed | Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis |
| title_short | Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis |
| title_sort | endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis |
| url | https://doi.org/10.15252/emmm.201910360 |
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