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Involvement of human monogenic cardiomyopathy genes in experimental polygenic cardiac hypertrophy

P R Prestes1, F Z Marques1,2, G Lopez-Campos3,4

  • 1School of Applied and Biomedical Sciences, Faculty of Science and Technology, Federation University Australia , Ballarat, Victoria , Australia.

Physiological Genomics
|May 19, 2018
PubMed

Insights

Genetic factors in hypertrophic cardiomyopathy (HCM) are unclear. This study used a rat model to find genes linking monogenic and polygenic HCM, revealing shared genetic influences on heart muscle disease.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genomics

Background:

  • Hypertrophic cardiomyopathy (HCM) involves heart muscle thickening, impairing function and increasing disease risk.
  • Genetic contributions to HCM are significant but not fully understood, particularly in polygenic forms.
  • The hypertrophic heart rat (HHR) serves as a polygenic model for cardiac hypertrophy and heart failure.

Purpose of the Study:

  • To investigate the role of genes associated with monogenic human cardiomyopathies in a polygenic rat model.
  • To identify genetic variants, mRNA expression changes, and microRNA involvement in the HHR model.
  • To compare findings with human idiopathic dilated cardiomyopathy data.

Main Methods:

  • Whole-genome sequencing of HHR and normal heart rat (NHR) to identify DNA variants.
  • Targeted RNA-sequencing of left ventricles across five ages to assess mRNA expression.
  • MicroRNA microarrays and analysis of microRNA-mRNA interactions in HHR and NHR.

Main Results:

  • Unique DNA variants were found in noncoding regions of HHR and NHR.
  • Twenty-nine genes showed differential mRNA expression in HHR across different ages.
  • Desmoglein 2 (Dsg2) and transthyretin (Ttr) were consistently differentially expressed in HHR; Ttr also showed differential expression in human idiopathic cardiomyopathy.
  • Two differentially expressed microRNAs in HHR were identified, interacting with five studied genes.

Conclusions:

  • Genes implicated in monogenic cardiomyopathies can influence polygenic forms of the disease.
  • The HHR model provides insights into the genetic underpinnings of complex cardiomyopathies.
  • Shared genetic pathways may exist between different types of human heart muscle diseases.

Keywords:
DNA sequencingcardiac hypertrophycardiomyopathygene expressionmicroRNA

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