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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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The embryological basis of subclinical hypertrophic cardiomyopathy

Gabriella Captur1, Carolyn Y Ho2, Saskia Schlossarek3,4

  • 1UCL Biological Mass Spectrometry Laboratory, Institute of Child Health and Great Ormond Street Hospital, 30 Guilford Street, London, UK.

Scientific Reports
|June 22, 2016
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) arises from MYBPC3 mutations. This study reveals an early embryonic phenotype in mice, showing altered cardiac development, including abnormal crypts and mitral valves, mirroring human HCM features.

Area of Science:

  • Cardiovascular Biology
  • Developmental Biology
  • Genetics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease often caused by mutations in sarcomeric protein genes, notably MYBPC3.
  • HCM is characterized by left ventricular hypertrophy, but a pre-hypertrophic phenotype with cardiac developmental anomalies also exists.
  • Understanding the early developmental basis of HCM is crucial for identifying therapeutic targets.

Purpose of the Study:

  • To investigate the embryonic cardiac development in a mouse model of hypertrophic cardiomyopathy (HCM) caused by Mybpc3 gene mutations.
  • To characterize the presence and significance of cardiac crypts, mitral valve abnormalities, and trabecular compaction during embryogenesis in wildtype and Mybpc3-knockout mice.
  • To determine if the pre-hypertrophic features observed in human HCM are recapitulated in an animal model.

Main Methods:

  • Utilized high-resolution episcopic microscopy to examine embryonic mouse hearts at various developmental stages.
  • Compared cardiac development in wildtype, homozygous (HO), and heterozygous (HET) Mybpc3-targeted knock-out (KO) mouse embryos.
  • Analyzed the formation and resolution of cardiac crypts, mitral valve development, and trabecular compaction.

Main Results:

  • Cardiac crypts are a normal, transient feature of wildtype mouse heart development, typically resolving by birth.
  • Homozygous and heterozygous Mybpc3-knockout embryos exhibited a significant increase in persistent cardiac crypts.
  • Abnormal mitral valve formation and altered cardiac trabecular compaction were observed in Mybpc3-knockout embryos, indicating an early embryological HCM phenotype.

Conclusions:

  • This study demonstrates an embryological phenotype associated with hypertrophic cardiomyopathy (HCM) in a mouse model, linked to Mybpc3 gene mutations.
  • Features such as cardiac crypts, mitral valve anomalies, and trabecular alterations during development are influenced by the presence of truncating Mybpc3 mutations.
  • The findings highlight the utility of the Mybpc3-KO mouse model for studying the developmental origins of HCM and associated pre-hypertrophic phenotypes.

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