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Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice

Mearini, Giulia, Stimpel, Doreen, Geertz, Birgit, Weinberger, Florian, Krämer, Elisabeth, Schlossarek, Saskia, Mourot-Filiatre, Julia, Stoehr, Andrea, Dutsch, Alexander, Wijnker, Paul J. M., Braren, Ingke, Katus, Hugo A., Müller, Oliver J., Voit, Thomas, Eschenhagen, Thomas, Carrier, Lucie·2014·Nature Communications
DOI 10.1038/ncomms6515
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  1. Maron, B. J. et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation 92, 785–789 (1995). · DOI
  2. Behrens-Gawlik, V., Mearini, G., Gedicke-Hornung, C., Richard, P. & Carrier, L. MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction. Pflugers. Arch. 466, 215–223 (2014). · DOI
  3. Schlossarek, S., Mearini, G. & Carrier, L. Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: mechanisms and therapeutic opportunities. J. Mol. Cell. Cardiol. 50, 613–620 (2011). · DOI
  4. van Dijk, S. J. et al. Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. Circulation 119, 1473–1483 (2009). · DOI
  5. Marston, S., Copeland, O., Gehmlich, K., Schlossarek, S. & Carrier, L. How do MYBPC3 mutations cause hypertrophic cardiomyopathy? J. Muscle Res. Cell Motil. 33, 75–80 (2012). · DOI
  6. Meurs, K. M. et al. A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum. Mol. Genet. 14, 3587–3593 (2005). · DOI
  7. Vignier, N. et al. Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice. Circ. Res. 105, 239–248 (2009). · DOI
  8. Schlossarek, S. et al. Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy. Basic Res. Cardiol. 107, 1–13 (2012). · DOI
  9. Schlossarek, S., Frey, N. & Carrier, L. Ubiquitin-proteasome system and hereditary cardiomyopathies. J. Mol. Cell Cardiol. 71, 25–31 (2014). · DOI
  10. Schlossarek, S. et al. Adrenergic stress reveals septal hypertrophy and proteasome impairment in heterozygous Mybpc3-targeted knock-in mice. J. Muscle Res. Cell Motil. 33, 5–15 (2012). · DOI
  11. Elliott, P. et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur. Heart J. 29, 270–276 (2008). · DOI
  12. Maron, B. J., Doerer, J. J., Haas, T. S., Tierney, D. M. & Mueller, F. O. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation 119, 1085–1092 (2009). · DOI
  13. Marziliano, N. et al. A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. Neonatology 102, 254–258 (2012). · DOI
  14. El-Saiedi, S. A., Seliem, Z. S. & Esmail, R. I. Hypertrophic cardiomyopathy: prognostic factors and survival analysis in 128 Egyptian patients. Cardiol. Young 1–7 (2013). · DOI
  15. Dellefave, L. M. et al. Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ. Cardiovasc. Genet. 2, 442–449 (2009). · DOI
  16. Lekanne Deprez, R. H. et al. Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. J. Med. Genet. 43, 829–832 (2006). · DOI
  17. Xin, B., Puffenberger, E., Tumbush, J., Bockoven, J. R. & Wang, H. Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy. Am. J. Med. Genet. A 143A, 2662–2667 (2007). · DOI
  18. Richard, P. et al. Hypertrophic Cardiomyopathy: distribution of disease genes, spectrum of mutations and implications for molecular diagnosis strategy. Circulation 107, 2227–2232 (2003). · DOI
  19. Schaefer, E. et al. Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene. Eur. J. Med. Genet. 57, 129–132 (2014). · DOI
  20. Gedicke-Hornung, C. et al. Rescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in mice. EMBO Mol. Med. 5, 1128–1145 (2013). · DOI
  21. Mearini, G. et al. Repair of Mybpc3 mRNA by 5'-trans-splicing in a mouse model of hypertrophic cardiomyopathy. Mol. Ther. Nucleic Acids 2, e102 (2013). · DOI
  22. Olivotto, I. et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo. Clin. Proc. 83, 630–638 (2008). · DOI
  23. Stohr, A. et al. Contractile abnormalities and altered drug response in engineered heart tissue from Mybpc3-targeted knock-in mice. J. Mol. Cell. Cardiol. 63, 189–198 (2013). · DOI
  24. Dominguez, E. et al. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum. Mol. Genet. 20, 681–693 (2011). · DOI · Paper page
  25. Kaye, D. M. et al. Percutaneous cardiac recirculation-mediated gene transfer of an inhibitory phospholamban peptide reverses advanced heart failure in large animals. J. Am. Coll. Cardiol. 50, 253–260 (2007). · DOI
  26. Jessup, M. et al. Calcium upregulation by percutaneous administration of gene therapy in cardiac disease (CUPID): a phase 2 trial of intracoronary gene therapy of sarcoplasmic reticulum Ca2+-ATPase in patients with advanced heart failure. Circulation 124, 304–313 (2011). · DOI · Paper page
  27. Spoladore, R., Maron, M. S., D'Amato, R., Camici, P. G. & Olivotto, I. Pharmacological treatment options for hypertrophic cardiomyopathy: high time for evidence. Eur. Heart J. 33, 1724–1733 (2012). · DOI
  28. 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
  29. Mamidi, R., Li, J., Gresham, K. S. & Stelzer, J. E. Cardiac myosin binding protein-C: a novel sarcomeric target for gene therapy. Pflugers. Arch. 466, 225–230 (2014). · DOI
  30. James, J. et al. Transgenic over-expression of a motor protein at high levels results in severe cardiac pathology. Transgenic Res. 8, 9–22 (1999). · DOI
  31. Bish, L. T. et al. Adeno-associated virus (AAV) serotype 9 provides global cardiac gene transfer superior to AAV1, AAV6, AAV7, and AAV8 in the mouse and rat. Hum. Gene Ther. 19, 1359–1368 (2008). · DOI
  32. 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
  33. Werfel, S. et al. Rapid and highly efficient inducible cardiac gene knockout in adult mice using AAV-mediated expression of Cre recombinase. Cardiovasc. Res. 104, 15–23 (2014). · DOI
  34. Li, F., Wang, X., Capasso, J. M. & Gerdes, A. M. Rapid transition of cardiac myocytes from hyperplasia to hypertrophy during postnatal development. J. Mol. Cell. Cardiol. 28, 1737–1746 (1996). · DOI
  35. Harris, S. P. et al. Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice. Circ. Res. 90, 594–601 (2002). · DOI
  36. Carrier, L. et al. Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice. Cardiovasc. Res. 63, 293–304 (2004). · DOI
  37. Friedrich, F. W. et al. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. Hum. Mol. Genet. 21, 3237–3254 (2012). · DOI
  38. Crocini, C. et al. Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue. Basic Res. Cardiol. 108, 349 (2013). · DOI

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Metadata

Authors
Mearini, G., Stimpel, D., Geertz, B., Weinberger, F., Krämer, E., Schlossarek, S., Mourot-Filiatre, J., Stoehr, A., Dutsch, A., Wijnker, P. J. M., Braren, I., Katus, H. A., Müller, O. J., Voit, T., Eschenhagen, T., & Carrier, L.
Venue
Nature Communications
Publisher
Springer Science and Business Media LLC
Published
2014-12-02
Volume
5
Issue
1
ISSN
2041-1723
DOI
10.1038/ncomms6515
Cited by
172
References
7
Language
en
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