Differences in molecular phenotype in mouse and human hypertrophic cardiomyopathy

Sci Rep. 2021 Jun 23;11(1):13163. doi: 10.1038/s41598-021-89451-6.

Abstract

Hypertrophic cardiomyopathy (HCM) is characterized by phenotypic heterogeneity. We investigated the molecular basis of the cardiac phenotype in two mouse models at established disease stage (mouse-HCM), and human myectomy tissue (human-HCM). We analyzed the transcriptome in 2 mouse models with non-obstructive HCM (R403Q-MyHC, R92W-TnT)/littermate-control hearts at 24 weeks of age, and in myectomy tissue of patients with obstructive HCM/control hearts (GSE36961, GSE36946). Additionally, we examined myocyte redox, cardiac mitochondrial DNA copy number (mtDNA-CN), mt-respiration, mt-ROS generation/scavenging and mt-Ca2+ handling in mice. We identified distinct allele-specific gene expression in mouse-HCM, and marked differences between mouse-HCM and human-HCM. Only two genes (CASQ1, GPT1) were similarly dysregulated in both mutant mice and human-HCM. No signaling pathway or transcription factor was predicted to be similarly dysregulated (by Ingenuity Pathway Analysis) in both mutant mice and human-HCM. Losartan was a predicted therapy only in TnT-mutant mice. KEGG pathway analysis revealed enrichment for several metabolic pathways, but only pyruvate metabolism was enriched in both mutant mice and human-HCM. Both mutant mouse myocytes demonstrated evidence of an oxidized redox environment. Mitochondrial complex I RCR was lower in both mutant mice compared to controls. MyHC-mutant mice had similar mtDNA-CN and mt-Ca2+ handling, but TnT-mutant mice exhibited lower mtDNA-CN and impaired mt-Ca2+ handling, compared to littermate-controls. Molecular profiling reveals differences in gene expression, transcriptional regulation, intracellular signaling and mt-number/function in 2 mouse models at established disease stage. Further studies are needed to confirm differences in gene expression between mouse and human-HCM, and to examine whether cardiac phenotype, genotype and/or species differences underlie the divergence in molecular profiles.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cardiac Myosins / genetics
  • Cardiomyopathy, Hypertrophic / complications
  • Cardiomyopathy, Hypertrophic / diagnostic imaging
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / metabolism
  • Carrier Proteins / genetics
  • Disease Models, Animal
  • Echocardiography
  • Gene Expression Regulation
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Mice
  • Mice, Transgenic
  • Mitochondria, Heart / metabolism
  • Mutation, Missense
  • Myocardium / metabolism
  • Myosin Heavy Chains / genetics
  • Phenotype
  • Point Mutation
  • RNA, Messenger / genetics
  • Species Specificity
  • Transcriptome*
  • Troponin T / genetics
  • Ventricular Outflow Obstruction / etiology
  • Ventricular Outflow Obstruction / genetics

Substances

  • Carrier Proteins
  • MYH7 protein, human
  • Myh6 protein, mouse
  • RNA, Messenger
  • Tnnt2 protein, mouse
  • Troponin T
  • myosin-binding protein C
  • Cardiac Myosins
  • Myosin Heavy Chains