Metabolic remodeling and calcium handling abnormality in induced pluripotent stem cell-derived cardiomyocytes in dilated phase of hypertrophic cardiomyopathy with MYBPC3 frameshift mutation.
Cardiomyocytes
Dilated phase of hypertrophic cardiomyopathy
Energy metabolism
Induced pluripotent stem cells
Myosin binding protein C
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
04 Jul 2024
04 Jul 2024
Historique:
received:
21
10
2023
accepted:
17
05
2024
medline:
5
7
2024
pubmed:
5
7
2024
entrez:
4
7
2024
Statut:
epublish
Résumé
Hypertrophic cardiomyopathy (HCM) is an inherited disorder characterized by left ventricular hypertrophy and diastolic dysfunction, and increases the risk of arrhythmias and heart failure. Some patients with HCM develop a dilated phase of hypertrophic cardiomyopathy (D-HCM) and have poor prognosis; however, its pathogenesis is unclear and few pathological models exist. This study established disease-specific human induced pluripotent stem cells (iPSCs) from a patient with D-HCM harboring a mutation in MYBPC3 (c.1377delC), a common causative gene of HCM, and investigated the associated pathophysiological mechanisms using disease-specific iPSC-derived cardiomyocytes (iPSC-CMs). We confirmed the expression of pluripotent markers and the ability to differentiate into three germ layers in D-HCM patient-derived iPSCs (D-HCM iPSCs). D-HCM iPSC-CMs exhibited disrupted myocardial sarcomere structures and an increased number of damaged mitochondria. Ca
Identifiants
pubmed: 38965264
doi: 10.1038/s41598-024-62530-0
pii: 10.1038/s41598-024-62530-0
doi:
Substances chimiques
myosin-binding protein C
0
Calcium
SY7Q814VUP
Carrier Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
15422Subventions
Organisme : Tsukuba Basic Research Support Program
ID : FY2020, Type B
Informations de copyright
© 2024. The Author(s).
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