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dc.contributor.author | Díez-Díez, Miriam | |
dc.contributor.author | Amorós-Pérez, Marta | |
dc.contributor.author | de la Barrera, Jorge | |
dc.contributor.author | Vázquez, Enrique | |
dc.contributor.author | Quintas, Ana | |
dc.contributor.author | Pascual-Figal, Domingo A | |
dc.contributor.author | Dopazo, Ana | |
dc.contributor.author | Sanchez-Cabo, Fatima | |
dc.contributor.author | Kleinman, Monica E | |
dc.contributor.author | Gordon, Leslie B | |
dc.contributor.author | Fuster, Valentin | |
dc.contributor.author | Andres, Vicente | |
dc.contributor.author | Fuster, Jose J. | |
dc.contributor.author | Pascual-Figal, Domingo A. | |
dc.contributor.author | Kleinman, Monica E. | |
dc.contributor.author | Gordon, Leslie B. | |
dc.contributor.author | Fuster, José J. | |
dc.date.accessioned | 2022-11-21T08:53:24Z | |
dc.date.available | 2022-11-21T08:53:24Z | |
dc.date.issued | 2022-06-25 | |
dc.identifier.citation | Geroscience . 2022 Jun 25. | es_ES |
dc.identifier.issn | 2509-2715 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/15195 | |
dc.description.abstract | Clonal hematopoiesis of indeterminate potential (CHIP), defined as the presence of somatic mutations in cancer-related genes in blood cells in the absence of hematological cancer, has recently emerged as an important risk factor for several age-related conditions, especially cardiovascular disease. CHIP is strongly associated with normal aging, but its role in premature aging syndromes is unknown. Hutchinson-Gilford progeria syndrome (HGPS) is an ultra-rare genetic condition driven by the accumulation of a truncated form of the lamin A protein called progerin. HGPS patients exhibit several features of accelerated aging and typically die from cardiovascular complications in their early teens. Previous studies have shown normal hematological parameters in HGPS patients, except for elevated platelets, and low levels of lamin A expression in hematopoietic cells relative to other cell types in solid tissues, but the prevalence of CHIP in HGPS remains unexplored. To investigate the potential role of CHIP in HGPS, we performed high-sensitivity targeted sequencing of CHIP-related genes in blood DNA samples from a cohort of 47 HGPS patients. As a control, the same sequencing strategy was applied to blood DNA samples from middle-aged and elderly individuals, expected to exhibit a biological age and cardiovascular risk profile similar to HGPS patients. We found that CHIP is not prevalent in HGPS patients, in marked contrast to our observations in individuals who age normally. Thus, our study unveils a major difference between HGPS and normal aging and provides conclusive evidence that CHIP is not frequent in HGPS and, therefore, is unlikely to contribute to the pathophysiology of this accelerated aging syndrome. | es_ES |
dc.description.sponsorship | This work was supported by Fundación “la Caixa” (grant number LCF/PR/HR17/52150007 to VF, and JJF). JJF is supported by a Ramón y Cajal award (RYC2016–20026) from the Spanish Ministerio de Ciencia e Innovación (MICIN)/Agencia Estatal de Investigación (AEI)/10.13039/501100011033 and Fondo Social Europeo “El FSE invierte en tu futuro”. VA’s lab is supported by MICIN/ AEI/10.13039/501100011033 and Fondo Social Europeo “El FSE invierte en tu futuro” (grant number PID2019-108489RBI00), the Progeria Research Foundation (Award PRF 2019–77), and a donation from Asociación Progeria Alexandra Peraut. LBG is supported by The Progeria Research Foundation. MDD is supported by a predoctoral FPI fellowship from the Spanish MICIN/AEI/10.13039/501100011033 and Fondo Social Europeo “El FSE invierte en tu futuro” (PRE2019-087463), and MA-P is supported by a predoctoral FPU contract from the Ministerio de Educación, Cultura y Deporte (FPU18/02913). The CNIC is supported by the MICIN, the Instituto de Salud Carlos III, the Pro-CNIC Foundation, and is a Severo Ochoa Center of Excellence (grant number CEX2020-001041-S funded by MICIN/AEI/10.13039/501100011033). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Springer | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.title | Clonal hematopoiesis is not prevalent in Hutchinson-Gilford progeria syndrome. | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Atribución 4.0 Internacional | * |
dc.identifier.pubmedID | 35752705 | es_ES |
dc.identifier.doi | 10.1007/s11357-022-00607-2 | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación (España) | es_ES |
dc.contributor.funder | Agencia Estatal de Investigación (España) | es_ES |
dc.contributor.funder | Unión Europea. Fondo Social Europeo (ESF/FSE) | es_ES |
dc.contributor.funder | Progeria Research Foundation | es_ES |
dc.contributor.funder | Asociación Progeria Alexandra Peraut | es_ES |
dc.contributor.funder | Ministerio de Educación, Cultura y Deporte (España) | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.contributor.funder | Fundación ProCNIC | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España) | es_ES |
dc.contributor.funder | Fundación La Caixa | es_ES |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 2509-2723 | es_ES |
dc.relation.publisherversion | 10.1007/s11357-022-00607-2 | es_ES |
dc.identifier.journal | GeroScience | es_ES |
dc.repisalud.orgCNIC | CNIC::Grupos de investigación::Fisiopatología Cardiovascular Molecular y Genética | es_ES |
dc.repisalud.institucion | CNIC | es_ES |
dc.rights.accessRights | open access | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/HR17/52150007 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/RYC2016–20026 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/10.13039/501100011033 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PID2019-108489RBI00 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PRE2019-087463 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/CEX2020-001041-S | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/FPU18/02913 | es_ES |