Related Experiment Video

Updated: Nov 19, 2025

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

Published on: August 8, 2022

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Adiponectin receptor 1 variants contribute to hypertrophic cardiomyopathy that can be reversed by rapamycin

Perundurai S Dhandapany1,2,3, Soojeong Kang4, Deepak K Kashyap5,6

  • 1Centre for Cardiovascular Biology and Disease, Institute for Stem Cell Science and Regenerative Medicine (inStem), Bangalore, India. dhan@instem.res.in djamel.lebeche@mssm.edu.

Science Advances
|February 1, 2021
PubMed

Insights

Novel genetic variants in adiponectin receptor 1 (ADIPOR1) are linked to hypertrophic cardiomyopathy (HCM). These ADIPOR1 variants disrupt metabolism and cause cardiac hypertrophy, offering new insights into HCM development.

Area of Science:

  • Genetics
  • Cardiology
  • Metabolism

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic heart disease.
  • Approximately 10% of HCM patients have comorbid diabetes mellitus.
  • The genetic basis for combined HCM and diabetes is unknown.

Purpose of the Study:

  • To investigate genetic variants contributing to HCM and comorbid diabetes.
  • To identify novel genetic risk factors for hypertrophic cardiomyopathy.

Main Methods:

  • Next-generation sequencing to identify genetic variants.
  • Biochemical assays to study metabolic dysregulation.
  • Transgenic mouse models to validate findings.

Main Results:

  • Novel and ultrarare variants in ADIPOR1 were identified as risk factors for HCM.
  • ADIPOR1 variants dysregulate glucose and lipid metabolism.
  • Cardiac hypertrophy was observed in a mouse model with an ADIPOR1 variant, and was rescued by rapamycin.

Conclusions:

  • ADIPOR1 variants can cause hypertrophic cardiomyopathy.
  • ADIPOR1 plays a role in regulating cardiac function and metabolism.
  • These findings offer new insights into the pathogenesis of HCM.

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