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

Nat Commun. 2014 Dec 2:5:5515. doi: 10.1038/ncomms6515.

Abstract

Homozygous or compound heterozygous frameshift mutations in MYBPC3 encoding cardiac myosin-binding protein C (cMyBP-C) cause neonatal hypertrophic cardiomyopathy (HCM), which rapidly evolves into systolic heart failure and death within the first year of life. Here we show successful long-term Mybpc3 gene therapy in homozygous Mybpc3-targeted knock-in (KI) mice, which genetically mimic these human neonatal cardiomyopathies. A single systemic administration of adeno-associated virus (AAV9)-Mybpc3 in 1-day-old KI mice prevents the development of cardiac hypertrophy and dysfunction for the observation period of 34 weeks and increases Mybpc3 messenger RNA (mRNA) and cMyBP-C protein levels in a dose-dependent manner. Importantly, Mybpc3 gene therapy unexpectedly also suppresses accumulation of mutant mRNAs. This study reports the first successful long-term gene therapy of HCM with correction of both haploinsufficiency and production of poison peptides. In the absence of alternative treatment options except heart transplantation, gene therapy could become a realistic treatment option for severe neonatal HCM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cardiomyopathy, Hypertrophic, Familial / genetics*
  • Cardiomyopathy, Hypertrophic, Familial / metabolism
  • Cardiomyopathy, Hypertrophic, Familial / therapy
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Dependovirus
  • Gene Knock-In Techniques
  • Genetic Therapy / methods*
  • Homozygote
  • Mice
  • RNA, Messenger / metabolism*

Substances

  • Carrier Proteins
  • RNA, Messenger
  • myosin-binding protein C