ArticleCell research2016
Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome.
Article in Cell research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
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Who cites it
72 citing papers in PubMed, 125 citations in OpenAlex.
- Delivery of mRNA Therapeutics Beyond Infectious Diseases: Design Innovations and Applications in Oncology, Cardiovascular, and Rare Genetic Diseases.Pharmaceuticals (Basel, Switzerland) · 2026Review
- Gene Editing Applications as Future Cardiovascular Therapies.Annual review of genetics · 2025Review
- Review
- Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group.Molecular therapy. Nucleic acids · 2025Review
- Review
- Harnessing mRNA for heart health: a new era in cardiovascular treatment.Theranostics · 2025Review
- Article
- Review
- The role of cardiac microenvironment in cardiovascular diseases: implications for therapy.Human cell · 2024Review
- Review
- Long-term efficacy and safety of cardiac genome editing for catecholaminergic polymorphic ventricular tachycardia.The journal of cardiovascular aging · 2024Article
- One-stepFrontiers in cell and developmental biology · 2024Article
- Ablation ofPNAS nexus · 2023Article
- CRISPR/Cas-mediated genome editing in mice for the development of drug delivery mechanism.Molecular biology reports · 2023Review
- Massively parallel evaluation and computational prediction of the activities and specificities of 17 small Cas9s.Nature methods · 2023Article
- Genomic Innovation in Early Life Cardiovascular Disease Prevention and Treatment.Circulation research · 2023Review
- Homology-directed repair of an MYBPC3 gene mutation in a rat model of hypertrophic cardiomyopathy.Gene therapy · 2023Article
- Genome Editing and Cardiac Arrhythmias.Cells · 2023Review
- Gene Modulation with CRISPR-based Tools in Human iPSC-Cardiomyocytes.Stem cell reviews and reports · 2023Review
- Recent advances in CRISPR-based genome editing technology and its applications in cardiovascular research.Military Medical Research · 2023Review
12 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PRKAG2 cardiac syndrome is an autosomal dominant inherited disease resulted from mutations in the PRKAG2 gene that encodes γ2 regulatory subunit of AMP-activated protein kinase. Affected patients usually develop ventricular tachyarrhythmia and experience progressive heart failure that is refractory to medical treatment and requires cardiac transplantation. In this study, we identify a H530R mutation in PRKAG2 from patients with familial Wolff-Parkinson-White syndrome. By generating H530R PRKAG2 transgenic and knock-in mice, we show that both models recapitulate human symptoms including cardiac hypertrophy and glycogen storage, confirming that the H530R mutation is causally related to PRKAG2 cardiac syndrome. We further combine adeno-associated virus-9 (AAV9) and the CRISPR/Cas9 gene-editing system to disrupt the mutant PRKAG2 allele encoding H530R while leaving the wild-type allele intact. A single systemic injection of AAV9-Cas9/sgRNA at postnatal day 4 or day 42 substantially restores the morphology and function of the heart in H530R PRKAG2 transgenic and knock-in mice. Together, our work suggests that in vivo CRISPR/Cas9 genome editing is an effective tool in the treatment of PRKAG2 cardiac syndrome and other dominant inherited cardiac diseases by selectively disrupting disease-causing mutations.
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