Related Experiment Video

Updated: Dec 13, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

4.0K

MYBPC3 Haplotype Linked to Hypertrophic Cardiomyopathy in Rhesus Macaques (Macaca mulatta)

Robert F Oldt1, Kimberly J Bussey2, Matthew L Settles3

  • 1School of Mathematical and Natural Sciences, Arizona State University at the West Campus, Glendale, Arizona; Evolutionary Biology Graduate Program, School of Life Sciences, Arizona State University at the West Campus, Glendale, Arizona;,

Comparative Medicine
|August 6, 2020
PubMed

Insights

Researchers identified a genetic risk factor for hypertrophic cardiomyopathy (HCM) in rhesus macaques. A specific MYBPC3 gene variant strongly associates with left ventricular hypertrophy (LVH), offering insights into this inherited heart condition.

Area of Science:

  • Genomics
  • Cardiovascular Research
  • Comparative Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is an inherited heart condition causing left ventricular hypertrophy (LVH) and sudden cardiac death.
  • Genetic factors contribute to HCM susceptibility, but current genetic testing identifies causal mutations in only half of human cases.
  • Rhesus macaques with LVH serve as a valuable model for studying HCM's genomic basis.

Purpose of the Study:

  • To investigate the genetic underpinnings of severe HCM and sudden cardiac death in rhesus macaques.
  • To identify genetic variants associated with left ventricular hypertrophy (LVH) in this animal model.
  • To explore the utility of evolutionary genomic data in complex disease studies.

Main Methods:

  • A next-generation genotyping assay targeting 7 sarcomeric rhesus genes was employed.
  • Amplicon sequencing was performed on 52 macaques with confirmed LVH and 42 unaffected controls.
  • Bias-reduced logistic regression was used to analyze genetic associations with LVH.

Main Results:

  • A risk haplotype in the rhesus MYBPC3 gene was identified.
  • This haplotype, containing an intronic variant, showed a strong association with LVH in homozygous or carrier forms.
  • The MYBPC3 gene is frequently disrupted in human and feline HCM, suggesting conserved mechanisms.

Conclusions:

  • The study identified a specific MYBPC3 gene variant associated with hypertrophic cardiomyopathy (HCM) in rhesus macaques.
  • Leveraging evolutionary genomic data is a practical strategy to minimize population bias in complex disease research.
  • This finding provides a comparative genetic model for understanding HCM and sudden cardiac death risk.

More Related Videos

Analysis of Simian Immunodeficiency Virus-specific CD8+ T-cells in Rhesus Macaques by Peptide-MHC-I Tetramer Staining06:25

Analysis of Simian Immunodeficiency Virus-specific CD8+ T-cells in Rhesus Macaques by Peptide-MHC-I Tetramer Staining

Published on: December 23, 2016

9.5K
Gene Editing of Primary Rhesus Macaque B Cells09:53

Gene Editing of Primary Rhesus Macaque B Cells

Published on: February 10, 2023

2.8K

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
244
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
356
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
316