MYH10 activation rescues contractile defects in arrhythmogenic cardiomyopathy (ACM).


Journal

Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555

Informations de publication

Date de publication:
13 10 2023
Historique:
received: 02 03 2023
accepted: 26 09 2023
medline: 23 10 2023
pubmed: 14 10 2023
entrez: 13 10 2023
Statut: epublish

Résumé

The most prevalent genetic form of inherited arrhythmogenic cardiomyopathy (ACM) is caused by mutations in desmosomal plakophilin-2 (PKP2). By studying pathogenic deletion mutations in the desmosomal protein PKP2, here we identify a general mechanism by which PKP2 delocalization restricts actomyosin network organization and cardiac sarcomeric contraction in this untreatable disease. Computational modeling of PKP2 variants reveals that the carboxy-terminal (CT) domain is required for N-terminal domain stabilization, which determines PKP2 cortical localization and function. In mutant PKP2 cells the expression of the interacting protein MYH10 rescues actomyosin disorganization. Conversely, dominant-negative MYH10 mutant expression mimics the pathogenic CT-deletion PKP2 mutant causing actin network abnormalities and right ventricle systolic dysfunction. A chemical activator of non-muscle myosins, 4-hydroxyacetophenone (4-HAP), also restores normal contractility. Our findings demonstrate that activation of MYH10 corrects the deleterious effect of PKP2 mutant over systolic cardiac contraction, with potential implications for ACM therapy.

Identifiants

pubmed: 37833253
doi: 10.1038/s41467-023-41981-5
pii: 10.1038/s41467-023-41981-5
pmc: PMC10575922
doi:

Substances chimiques

Actomyosin 9013-26-7
Plakophilins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

6461

Informations de copyright

© 2023. Springer Nature Limited.

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Auteurs

Nieves García-Quintáns (N)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Silvia Sacristán (S)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Cristina Márquez-López (C)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Cristina Sánchez-Ramos (C)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Fernando Martinez-de-Benito (F)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
CIBER de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.

David Siniscalco (D)

Materials Science Factory, Instituto de Ciencia de Materiales de Madrid (ICMM), CSIC, Madrid, Spain.

Andrés González-Guerra (A)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Emilio Camafeita (E)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
CIBER de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.

Marta Roche-Molina (M)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Mariya Lytvyn (M)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

David Morera (D)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

María I Guillen (MI)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

María A Sanguino (MA)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

David Sanz-Rosa (D)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
CIBER de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
Universidad Europea, Madrid, Spain.

Daniel Martín-Pérez (D)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

Ricardo Garcia (R)

Materials Science Factory, Instituto de Ciencia de Materiales de Madrid (ICMM), CSIC, Madrid, Spain.

Juan A Bernal (JA)

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain. jabernal@cnic.es.
CIBER de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain. jabernal@cnic.es.

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Classifications MeSH