ArticleScientific reports2018
Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 39 citations in OpenAlex.
- Heart-reactive antibody levels differentially associate with ventricular function in hereditary cardiomyopathies.BMC cardiovascular disorders · 2026Article
- Left Ventricular Structural, Physiological, and Transcriptomic Abnormalities in a Novel Porcine Hypertrophic Cardiomyopathy Model.JACC. Basic to translational science · 2026Article
- From farm to lab: gene-edited sheep transforming bone research.JBMR plus · 2026Review
- Models of the human heart for biomedical research: Opportunities and challenges.Physiological reports · 2026Review
- Perinatal death in pig models of hypertrophic cardiomyopathy carrying sarcomere pathogenic variants.Journal of molecular and cellular cardiology plus · 2025Article
- Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.JACC. Basic to translational science · 2025Review
- Review
- Simultaneous electromechanical monitoring in engineered heart tissues using a mesoscale framework.Science advances · 2024Article
- The pig as an optimal animal model for cardiovascular research.Lab animal · 2024Review
- Advances in symptomatic therapy for left ventricular non-compaction in children.Frontiers in pediatrics · 2023Review
- Pigs with anFrontiers in cell and developmental biology · 2023Article
- CRISPR Modeling and Correction of Cardiovascular Disease.Circulation research · 2022Review
- Transcatheter Myotomy to Relieve Left Ventricular Outflow Tract Obstruction: The Septal Scoring Along the Midline Endocardium Procedure in Animals.Circulation. Cardiovascular interventions · 2022Article
- Circulating miR-499a-5p Is a Potential Biomarker ofInternational journal of molecular sciences · 2022Article
- Ion Channel Impairment and Myofilament CaCells · 2021Review
- Current status of the application of gene editing in pigs.The Journal of reproduction and development · 2021Review
- Efficient deletion of LoxP-flanked selectable marker genes from the genome of transgenic pigs by an engineered Cre recombinase.Transgenic research · 2020Article
- Strategies for targeting the cardiac sarcomere: avenues for novel drug discovery.Expert opinion on drug discovery · 2020Review
- Genome Editing for the Understanding and Treatment of Inherited Cardiomyopathies.International journal of molecular sciences · 2020Review
- The Year of the Rat: The Rat Genome Database at 20: a multi-species knowledgebase and analysis platform.Nucleic acids research · 2020Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Hypertrophic Cardiomyopathy (HCM) is the most common inherited cardiac disease. About 30% of the patients are heterozygous for mutations in the MYH7 gene encoding the ß-myosin heavy chain (MyHC). Hallmarks of HCM are cardiomyocyte disarray and hypertrophy of the left ventricle, the symptoms range from slight arrhythmias to sudden cardiac death or heart failure. To gain insight into the underlying mechanisms of the diseases' etiology we aimed to generate genome edited pigs with an HCM-mutation. We used TALEN-mediated genome editing and successfully introduced the HCM-point mutation R723G into the MYH7 gene of porcine fibroblasts and subsequently cloned pigs that were heterozygous for the HCM-mutation R723G. No off-target effects were determined in the R723G-pigs. Surprisingly, the animals died within 24 h post partem, probably due to heart failure as indicated by a shift in the a/ß-MyHC ratio in the left ventricle. Most interestingly, the neonatal pigs displayed features of HCM, including mild myocyte disarray, malformed nuclei, and MYH7-overexpression. The finding of HCM-specific pathology in neonatal R723G-piglets suggests a very early onset of the disease and highlights the importance of novel large animal models for studying causative mechanisms and long-term progression of human cardiac diseases.
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