Involvement of human monogenic cardiomyopathy genes in experimental polygenic cardiac hypertrophy

Physiological Genomics
Priscilla R PrestesStephen B Harrap

Abstract

Hypertrophic cardiomyopathy thickens heart muscles, reducing functionality and increasing risk of cardiac disease and morbidity. Genetic factors are involved, but their contribution is poorly understood. We used the hypertrophic heart rat (HHR), a unique normotensive polygenic model of cardiac hypertrophy and heart failure, to investigate the role of genes associated with monogenic human cardiomyopathy. We selected 42 genes involved in monogenic human cardiomyopathies to study: 1) DNA variants, by sequencing the whole genome of 13-wk-old HHR and age-matched normal heart rat (NHR), its genetic control strain; 2) mRNA expression, by targeted RNA-sequencing in left ventricles of HHR and NHR at 5 ages (2 days old and 4, 13, 33, and 50 wk old) compared with human idiopathic dilated cardiomyopathy data; and 3) microRNA expression, with rat microRNA microarrays in left ventricles of 2-day-old HHR and age-matched NHR. We also investigated experimentally validated microRNA-mRNA interactions. Whole-genome sequencing revealed unique variants mostly located in noncoding regions of HHR and NHR. We found 29 genes differentially expressed in at least 1 age. Genes encoding desmoglein 2 ( Dsg2) and transthyretin ( Ttr) were significantly differ...Continue Reading

References

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Citations

Jun 29, 2021·The Journal of General Physiology·June-Chiew HanKimberley M Mellor
Dec 18, 2021·Hypertension Research : Official Journal of the Japanese Society of Hypertension·Katja GrabowskiReinhold Kreutz

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Datasets Mentioned

BETA
GSE38710
GSE1145
GEO2R
GM6368

Software Mentioned

miRWalk
GEO2R
SnpEff
miRanda
Genome Analysis Toolkit
Partek Genomics Suite
TargetScan

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