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

G Mearini, D Stimpel, B Geertz, F Weinberger… - Nature …, 2014 - nature.com
G Mearini, D Stimpel, B Geertz, F Weinberger, E Krämer, S Schlossarek, J Mourot-Filiatre…
Nature communications, 2014nature.com
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 …
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.
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