The emerging role of clonal haematopoiesis in the pathogenesis of dilated cardiomyopathy.

The increased sensitivity of novel DNA sequencing techniques has made it possible to identify somatic mutations in small circulating clones of haematopoietic stem cells. When the mutation affects a 'driver' gene, the mutant clone gains a competitive advantage and has the potential to expan...

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Detalles Bibliográficos
Autores: Verdonschot, Job A J, Fuster, Jose J, Walsh, Kenneth, Heymans, Stephane R B
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/25906
Acceso en línea:https://hdl.handle.net/20.500.12105/25906
Access Level:acceso abierto
Palabra clave:CHIP
Clonal haematopoiesis
Dilated cardiomyopathy
Heart failure
Sequencing
Somatic mutations
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spelling The emerging role of clonal haematopoiesis in the pathogenesis of dilated cardiomyopathy.Verdonschot, Job A JFuster, Jose JWalsh, KennethHeymans, Stephane R BCHIPClonal haematopoiesisDilated cardiomyopathyHeart failureSequencingSomatic mutationsThe increased sensitivity of novel DNA sequencing techniques has made it possible to identify somatic mutations in small circulating clones of haematopoietic stem cells. When the mutation affects a 'driver' gene, the mutant clone gains a competitive advantage and has the potential to expand over time, a phenomenon referred to as clonal haematopoiesis (CH), which is emerging as a new risk factor for various non-haematological conditions, most notably cardiovascular disease (e.g. heart failure). Dilated cardiomyopathy (DCM) is a form of non-ischaemic heart failure that is characterized by a heterogeneous aetiology. The first evidence is arising that CH plays an important role in the disease course in patients with DCM, and a strong association of CH with multiple aetiologies of DCM has been described (e.g. inflammation, chemotherapy, and atrial fibrillation). The myocardial inflammation induced by CH may be an important trigger for DCM development for an already susceptible heart, e.g. in the presence of genetic variants, environmental triggers, and comorbidities. Studies investigating the role of CH in the pathogenesis of DCM are expected to increase rapidly. To move the field forward, it will be important to report the methodology and results in a standardized manner, so results can be combined and compared. The accurate measurement of CH in patients with DCM can provide guidance of specific (anti-inflammatory) therapies, as mutations in the CH driver genes prime the inflammasome pathway.Oxford University PressDutch Heart Foundation (Holanda)Fundación La Marató TV3Ministerio de Ciencia, Innovación y Universidades (España)Fundación La CaixaInstituto de Salud Carlos IIIUnión Europea. Comisión Europea. NextGenerationEUMinisterio de Ciencia e Innovación (España)Fundación ProCNICMinisterio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España)National Institutes of Health (Estados Unidos)20242024-12-1820242024-10-1720242024-10-17research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.12105/25906reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)InglésengEuropean Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 101095426European Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 305507ES PLEC2021-008194 Not availableES MICIU AEI 501100011033ES PID2021-126580OB-I00 Not availableES 202314-31 Not availableES LCF PR 52420011ES MICIN AEI 501100011033open accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial-ShareAlike 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-sa/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/259062026-06-12T12:43:37Z
dc.title.none.fl_str_mv The emerging role of clonal haematopoiesis in the pathogenesis of dilated cardiomyopathy.
title The emerging role of clonal haematopoiesis in the pathogenesis of dilated cardiomyopathy.
spellingShingle The emerging role of clonal haematopoiesis in the pathogenesis of dilated cardiomyopathy.
Verdonschot, Job A J
CHIP
Clonal haematopoiesis
Dilated cardiomyopathy
Heart failure
Sequencing
Somatic mutations
title_short The emerging role of clonal haematopoiesis in the pathogenesis of dilated cardiomyopathy.
title_full The emerging role of clonal haematopoiesis in the pathogenesis of dilated cardiomyopathy.
title_fullStr The emerging role of clonal haematopoiesis in the pathogenesis of dilated cardiomyopathy.
title_full_unstemmed The emerging role of clonal haematopoiesis in the pathogenesis of dilated cardiomyopathy.
title_sort The emerging role of clonal haematopoiesis in the pathogenesis of dilated cardiomyopathy.
dc.creator.none.fl_str_mv Verdonschot, Job A J
Fuster, Jose J
Walsh, Kenneth
Heymans, Stephane R B
author Verdonschot, Job A J
author_facet Verdonschot, Job A J
Fuster, Jose J
Walsh, Kenneth
Heymans, Stephane R B
author_role author
author2 Fuster, Jose J
Walsh, Kenneth
Heymans, Stephane R B
author2_role author
author
author
dc.contributor.none.fl_str_mv Dutch Heart Foundation (Holanda)
Fundación La Marató TV3
Ministerio de Ciencia, Innovación y Universidades (España)
Fundación La Caixa
Instituto de Salud Carlos III
Unión Europea. Comisión Europea. NextGenerationEU
Ministerio de Ciencia e Innovación (España)
Fundación ProCNIC
Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España)
National Institutes of Health (Estados Unidos)
dc.subject.none.fl_str_mv CHIP
Clonal haematopoiesis
Dilated cardiomyopathy
Heart failure
Sequencing
Somatic mutations
topic CHIP
Clonal haematopoiesis
Dilated cardiomyopathy
Heart failure
Sequencing
Somatic mutations
description The increased sensitivity of novel DNA sequencing techniques has made it possible to identify somatic mutations in small circulating clones of haematopoietic stem cells. When the mutation affects a 'driver' gene, the mutant clone gains a competitive advantage and has the potential to expand over time, a phenomenon referred to as clonal haematopoiesis (CH), which is emerging as a new risk factor for various non-haematological conditions, most notably cardiovascular disease (e.g. heart failure). Dilated cardiomyopathy (DCM) is a form of non-ischaemic heart failure that is characterized by a heterogeneous aetiology. The first evidence is arising that CH plays an important role in the disease course in patients with DCM, and a strong association of CH with multiple aetiologies of DCM has been described (e.g. inflammation, chemotherapy, and atrial fibrillation). The myocardial inflammation induced by CH may be an important trigger for DCM development for an already susceptible heart, e.g. in the presence of genetic variants, environmental triggers, and comorbidities. Studies investigating the role of CH in the pathogenesis of DCM are expected to increase rapidly. To move the field forward, it will be important to report the methodology and results in a standardized manner, so results can be combined and compared. The accurate measurement of CH in patients with DCM can provide guidance of specific (anti-inflammatory) therapies, as mutations in the CH driver genes prime the inflammasome pathway.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024-12-18
2024
2024-10-17
2024
2024-10-17
dc.type.none.fl_str_mv research article
http://purl.org/coar/resource_type/c_2df8fbb1
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/20.500.12105/25906
url https://hdl.handle.net/20.500.12105/25906
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv European Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 101095426
European Commission http://dx.doi.org/10.13039/501100000780 Horizon 2020 Framework Programme 305507
ES PLEC2021-008194 Not available
ES MICIU AEI 501100011033
ES PID2021-126580OB-I00 Not available
ES 202314-31 Not available
ES LCF PR 52420011
ES MICIN AEI 501100011033
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-ShareAlike 4.0 International
http://creativecommons.org/licenses/by-nc-sa/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-ShareAlike 4.0 International
http://creativecommons.org/licenses/by-nc-sa/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Oxford University Press
publisher.none.fl_str_mv Oxford University Press
dc.source.none.fl_str_mv reponame:Repisalud
instname:Instituto de Salud Carlos III (ISCIII)
instname_str Instituto de Salud Carlos III (ISCIII)
reponame_str Repisalud
collection Repisalud
repository.name.fl_str_mv
repository.mail.fl_str_mv
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