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Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice

Chai, Andreas C., Cui, Miao, Chemello, Francesco, Li, Hui, Chen, Kenian, Tan, Wei, Atmanli, Ayhan, McAnally, John R., Zhang, Yu, Xu, Lin, Liu, Ning, Bassel-Duby, Rhonda, Olson, Eric N.·2023·Nature Medicine
DOI 10.1038/s41591-022-02176-5PMC PMC10053064
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  1. Maron, B. J. Clinical course and management of hypertrophic cardiomyopathy. N. Engl. J. Med 379, 655–668 (2018). · DOI · Paper page
  2. Semsarian, C., Ingles, J., Maron, M. S. & Maron, B. J. New perspectives on the prevalence of hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 65, 1249–1254 (2015). · DOI
  3. Trivedi, D. V., Adhikari, A. S., Sarkar, S. S., Ruppel, K. M. & Spudich, J. A. Hypertrophic cardiomyopathy and the myosin mesa: viewing an old disease in a new light. Biophys. Rev. 10, 27–48 (2018). · DOI
  4. Tyska, M. J. et al. Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. Circ. Res. 86, 737–744 (2000). · DOI
  5. Sarkar, S. S. et al. The hypertrophic cardiomyopathy mutations R403Q and R663H increase the number of myosin heads available to interact with actin. Sci. Adv. 6, eaax0069 (2020). · DOI
  6. Koblan, L. W. et al. In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice. Nature 589, 608–614 (2021). · DOI
  7. Suh, S. et al. Restoration of visual function in adult mice with an inherited retinal disease via adenine base editing. Nat. Biomed. Eng. 5, 169–178 (2021). · DOI
  8. Chemello, F. et al. Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing. Sci. Adv. 7, eabg4910 (2021). · DOI
  9. Koblan, L. W. et al. Improving cytidine and adenine base editors by expression optimization and ancestral reconstruction. Nat. Biotechnol. 36, 843–846 (2018). · DOI · Paper page
  10. Concordet, J. P. & Haeussler, M. CRISPOR: intuitive guide selection for CRISPR/Cas9 genome editing experiments and screens. Nucleic. Acid. Res. 46, W242–W245 (2018). · DOI
  11. Pua, C. J. et al. Genetic studies of hypertrophic cardiomyopathy in Singaporeans identify variants in TNNI3 and TNNT2 that are common in Chinese patients. Circ. Genom. Precis. Med. 13, 424–434 (2020). · DOI
  12. Toepfer, C. N. et al. Myosin sequestration regulates sarcomere function, cardiomyocyte energetics, and metabolism, informing the pathogenesis of hypertrophic cardiomyopathy. Circulation 141, 828–842 (2020). · DOI
  13. Cohn, R. et al. A contraction stress model of hypertrophic cardiomyopathy due to sarcomere mutations. Stem Cell Rep. 12, 71–83 (2019). · DOI
  14. Vakrou, S. & Abraham, M. R. Hypertrophic cardiomyopathy: a heart in need of an energy bar? Front. Physiol. 5, 309 (2014). · DOI
  15. Lyons, G. E., Schiaffino, S., Sassoon, D., Barton, P. & Buckingham, M. Developmental regulation of myosin gene expression in mouse cardiac muscle. J. Cell Biol. 111, 2427–2436 (1990). · DOI
  16. Geisterfer-Lowrance, A. A. et al. A mouse model of familial hypertrophic cardiomyopathy. Science 272, 731–734 (1996). · DOI
  17. Ma, S. et al. Efficient correction of a hypertrophic cardiomyopathy mutation by ABEmax-NG. Circ. Res. 129, 895–908 (2021). · DOI
  18. Ishikawa, K., Weber, T. & Hajjar, R. J. Human cardiac gene therapy. Circ. Res. 123, 601–613 (2018). · DOI
  19. Zettler, J., Schutz, V. & Mootz, H. D. The naturally split Npu DnaE intein exhibits an extraordinarily high rate in the protein trans-splicing reaction. FEBS Lett. 583, 909–914 (2009). · DOI
  20. Prasad, K. M., Xu, Y., Yang, Z., Acton, S. T. & French, B. A. Robust cardiomyocyte-specific gene expression following systemic injection of AAV: in vivo gene delivery follows a Poisson distribution. Gene Ther. 18, 43–52 (2011). · DOI
  21. Teekakirikul, P. et al. Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-beta. J. Clin. Invest. 120, 3520–3529 (2010). · DOI
  22. Jiang, J., Wakimoto, H., Seidman, J. G. & Seidman, C. E. Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy. Science 342, 111–114 (2013). · DOI
  23. Pare, J. A., Fraser, R. G., Pirozynski, W. J., Shanks, J. A. & Stubington, D. Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy. Am. J. Med. 31, 37–62 (1961). · DOI
  24. Fananapazir, L. & Epstein, N. D. Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. Circulation 89, 22–32 (1994). · DOI
  25. Ho, C. Y. et al. Genotype and lifetime burden of disease in hypertrophic cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). Circulation 138, 1387–1398 (2018). · DOI · Paper page
  26. Carroll, K. J. et al. A mouse model for adult cardiac-specific gene deletion with CRISPR/Cas9. Proc. Natl Acad. Sci. USA 113, 338–343 (2016). · DOI
  27. Maron, B. J., Yeates, L. & Semsarian, C. Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy. Am. J. Cardiol. 107, 604–608 (2011). · DOI
  28. Green, E. M. et al. A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science 351, 617–621 (2016). · DOI
  29. Stern, J. A. et al. A small molecule inhibitor of sarcomere contractility acutely relieves left ventricular outflow tract obstruction in feline hypertrophic cardiomyopathy. PLoS ONE 11, e0168407 (2016). · DOI
  30. Ladage, D., Ishikawa, K., Tilemann, L., Muller-Ehmsen, J. & Kawase, Y. Percutaneous methods of vector delivery in preclinical models. Gene Ther. 19, 637–641 (2012). · DOI
  31. Banskota, S. et al. Engineered virus-like particles for efficient in vivo delivery of therapeutic proteins. Cell 185, 250–265 e216 (2022). · DOI · Paper page
  32. Tabebordbar, M. et al. Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species. Cell 184, 4919–4938 e4922 (2021). · DOI
  33. Lompre, A. M. et al. Species- and age-dependent changes in the relative amounts of cardiac myosin isoenzymes in mammals. Dev. Biol. 84, 286–290 (1981). · DOI
  34. Desai, M. Y. et al. Study design and rationale of VALOR-HCM: evaluation of mavacamten in adults with symptomatic obstructive hypertrophic cardiomyopathy who are eligible for septal reduction therapy. Am. Heart J. 239, 80–89 (2021). · DOI
  35. Saberi, S. et al. Mavacamten favorably impacts cardiac structure in obstructive hypertrophic cardiomyopathy: EXPLORER-HCM Cardiac Magnetic Resonance Substudy Analysis. Circulation 143, 606–608 (2021). · DOI · Paper page
  36. Keam, S.J. Mavacamten: First Approval. Drugs 82, 1127–1135 (2022). · DOI
  37. Ho, C. Y. et al. Evaluation of mavacamten in symptomatic patients with nonobstructive hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 75, 2649–2660 (2020). · DOI
  38. Murphy, E. & Steenbergen, C. Gender-based differences in mechanisms of protection in myocardial ischemia-reperfusion injury. Cardiovasc. Res. 75, 478–486 (2007). · DOI
  39. Huang, T. P. et al. Circularly permuted and PAM-modified Cas9 variants broaden the targeting scope of base editors. Nat. Biotechnol. 37, 626–631 (2019). · DOI
  40. Levy, J. M. et al. Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses. Nat. Biomed. Eng. 4, 97–110 (2020). · DOI
  41. Correia, C. et al. Distinct carbon sources affect structural and functional maturation of cardiomyocytes derived from human pluripotent stem cells. Sci. Rep. 7, 8590 (2017). · DOI
  42. Kluesner, M. G. et al. EditR: a method to quantify base editing from Sanger sequencing. CRISPR J. 1, 239–250 (2018). · DOI · Paper page
  43. Atmanli, A. et al. Cardiac myoediting attenuates cardiac abnormalities in human and mouse models of Duchenne muscular dystrophy. Circ. Res. 129, 602–616 (2021). · DOI
  44. Kijlstra, J. D. et al. Integrated analysis of contractile kinetics, force generation, and electrical activity in single human stem cell-derived cardiomyocytes. Stem Cell Rep. 5, 1226–1238 (2015). · DOI
  45. Clement, K. et al. CRISPResso2 provides accurate and rapid genome editing sequence analysis. Nat. Biotechnol. 37, 224–226 (2019). · DOI
  46. Miura, H., Quadros, R. M., Gurumurthy, C. B. & Ohtsuka, M. Easi-CRISPR for creating knock-in and conditional knockout mouse models using long ssDNA donors. Nat. Protoc. 13, 195–215 (2018). · DOI
  47. Creed, H. A. & Tong, C. W. Preparation and identification of cardiac myofibrils from whole heart samples. Methods Mol. Biol. 2319, 15–24 (2021). · DOI
  48. Cui, M. & Olson, E. N. Protocol for single-nucleus transcriptomics of diploid and tetraploid cardiomyocytes in murine hearts. STAR Protoc. 1, 100049 (2020). · DOI

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Metadata

Authors
Chai, A. C., Cui, M., Chemello, F., Li, H., Chen, K., Tan, W., Atmanli, A., McAnally, J. R., Zhang, Y., Xu, L., Liu, N., Bassel-Duby, R., & Olson, E. N.
Venue
Nature Medicine
Publisher
Springer Science and Business Media LLC
Published
2023-02
Volume
29
Issue
2
Pages
401-411
ISSN
  • 1078-8956
  • 1546-170X
DOI
10.1038/s41591-022-02176-5
PMC
PMC10053064
Cited by
184
References
16
Language
en
Licence
Funders
  • U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (HL-130253, HL-157281, F30HL163915)
  • U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-087351)
  • Foundation Leducq Transatlantic Networks of Excellence in Cardiovascular Research Robert A. Welch Foundation
  • American Heart Association (907611)

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