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Angiopoietin-2 reverses endothelial cell dysfunction in progeria vasculature.
Aging Cell
October 2024
Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, Maryland, USA.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder in children caused by a point mutation in the lamin A gene, resulting in a toxic form of lamin A called progerin. Accelerated atherosclerosis leading to heart attack and stroke are the major causes of death in these patients. Endothelial cell (EC) dysfunction contributes to the pathogenesis of HGPS related cardiovascular diseases (CVD).
View Article and Find Full Text PDFProgerin mRNA expression in non-HGPS patients is correlated with widespread shifts in transcript isoforms.
NAR Genom Bioinform
September 2024
Department of Cell Biology and Molecular Genetics, University of Maryland College Park, MD, USA.
Article Synopsis
- Hutchinson-Gilford Progeria Syndrome (HGPS) is caused by a mutation leading to the production of a lamin variant called progerin, associated with premature aging.
- Research using RNA-seq data from non-HGPS patients revealed that progerin is expressed in all tissue types and is linked to telomere shortening, particularly in skin cells.
- The study indicates that progerin expression may influence changes in gene splicing patterns and mitochondrial function, highlighting its potential role in age-related cellular processes.
The Consideration of Pseudoxanthoma Elasticum as a Progeria Syndrome.
Front Biosci (Landmark Ed)
March 2023
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen, Universitätsklinik der Ruhr-Universität Bochum, 32545 Bad Oeynhausen, Germany.
Background: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the () gene. Patients with PXE show molecular and clinical characteristics of known premature aging syndromes, such as Hutchinson-Gilford progeria syndrome (HGPS). Nevertheless, PXE has only barely been discussed against the background of premature aging, although a detailed characterization of aging processes in PXE could contribute to a better understanding of its pathogenesis.
View Article and Find Full Text PDFThe Heterochromatin protein 1 is a regulator in RNA splicing precision deficient in ulcerative colitis.
Nat Commun
November 2022
Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015, Paris, France.
Defects in RNA splicing have been linked to human disorders, but remain poorly explored in inflammatory bowel disease (IBD). Here, we report that expression of the chromatin and alternative splicing regulator HP1γ is reduced in ulcerative colitis (UC). Accordingly, HP1γ gene inactivation in the mouse gut epithelium triggers IBD-like traits, including inflammation and dysbiosis.
View Article and Find Full Text PDFVascular senescence in progeria: role of endothelial dysfunction.
Eur Heart J Open
July 2022
Department of Cardiovascular Sciences, Center for Cardiovascular Regeneration, Houston Methodist Research Institute, Houston 77030, TX, USA.
Aims: Hutchinson-Gilford progeria syndrome (HGPS) is a pre-mature aging disorder caused by the mutation of the LMNA gene leading to an irreversibly farnesylated lamin A protein: progerin. The major causes of death in HGPS are coronary and arterial occlusive disease. In the murine model of HGPS, vascular smooth muscle cell (VSMC) loss is the primary vascular manifestation, which is different from the arterial occlusive disease seen in older patients.
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