دورية أكاديمية
أعرض في EDS

ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.

التفاصيل البيبلوغرافية
العنوان: ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.
المؤلفون: Przyklenk M; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Karmacharya S; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Bonasera D; Genetic Instability, Cell Death and Inflammation Laboratory, Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Pasanen-Zentz AL; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Kmoch S; Research Unit of Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Paulsson M; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Wagener R; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Liccardi G; Genetic Instability, Cell Death and Inflammation Laboratory, Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Schiavinato A; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany. aschiav1@uni-koeln.de.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. aschiav1@uni-koeln.de.; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. aschiav1@uni-koeln.de.
المصدر: Scientific reports [Sci Rep] 2024 Apr 23; Vol. 14 (1), pp. 9321. Date of Electronic Publication: 2024 Apr 23.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : Nature Publishing Group, copyright 2011-
مواضيع طبية MeSH: Fibroblasts*/metabolism , Cellular Senescence*/genetics , Alopecia*/metabolism , Alopecia*/pathology , Alopecia*/genetics , Anodontia* , Growth Disorders* , Microfilament Proteins*, Humans ; Receptors, Cell Surface/metabolism ; Receptors, Cell Surface/genetics ; Receptors, Cell Surface/deficiency ; Optic Atrophies, Hereditary/genetics ; Optic Atrophies, Hereditary/metabolism ; Actins/metabolism ; Progeria/genetics ; Progeria/pathology ; Progeria/metabolism
مستخلص: ANTXR1 is one of two cell surface receptors mediating the uptake of the anthrax toxin into cells. Despite substantial research on its role in anthrax poisoning and a proposed function as a collagen receptor, ANTXR1's physiological functions remain largely undefined. Pathogenic variants in ANTXR1 lead to the rare GAPO syndrome, named for its four primary features: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy. The disease is also associated with a complex range of other phenotypes impacting the cardiovascular, skeletal, pulmonary and nervous systems. Aberrant accumulation of extracellular matrix components and fibrosis are considered to be crucial components in the pathogenesis of GAPO syndrome, contributing to the shortened life expectancy of affected individuals. Nonetheless, the specific mechanisms connecting ANTXR1 deficiency to the clinical manifestations of GAPO syndrome are largely unexplored. In this study, we present evidence that ANTXR1 deficiency initiates a senescent phenotype in human fibroblasts, correlating with defects in nuclear architecture and actin dynamics. We provide novel insights into ANTXR1's physiological functions and propose GAPO syndrome to be reconsidered as a progeroid disorder highlighting an unexpected role for an integrin-like extracellular matrix receptor in human aging.
(© 2024. The Author(s).)
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معلومات مُعتمدة: 384170921: FOR2722/B1 Deutsche Forschungsgemeinschaft
المشرفين على المادة: 0 (ANTXR1 protein, human)
0 (Receptors, Cell Surface)
0 (Actins)
0 (Microfilament Proteins)
SCR Disease Name: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
تواريخ الأحداث: Date Created: 20240423 Date Completed: 20240424 Latest Revision: 20240514
رمز التحديث: 20240514
مُعرف محوري في PubMed: PMC11039612
DOI: 10.1038/s41598-024-59901-y
PMID: 38653789
قاعدة البيانات: MEDLINE
الوصف
تدمد:2045-2322
DOI:10.1038/s41598-024-59901-y