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Updated: Aug 16, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Integrated Computational and In Vivo Evidence Prioritizes MYH6 as a Candidate Node in PFOS-Associated HCM-like
1State Key Laboratory of Digital Medical Engineering, Southeast University, Nanjing, China 211189; Key Laboratory of Environmental Medicine Engineering of Ministry of Education, School of, Public Health, Southeast University, Nanjing, China 210096.
Per- and polyfluoroalkyl substances (PFAS) exposure may impact heart health by altering MYH6 expression in cardiomyocytes, potentially contributing to hypertrophic cardiomyopathy-like remodeling. Further research is needed to understand these complex cardiovascular effects.
Area of Science:
- Environmental Health
- Cardiovascular Biology
- Toxicology
Background:
- Per- and polyfluoroalkyl substances (PFAS) are persistent environmental contaminants linked to cardiovascular issues.
- The specific molecular mechanisms underlying PFAS-induced cardiac remodeling are not fully understood.
Purpose of the Study:
- To identify key molecular targets associated with perfluorooctane sulfonate (PFOS)-related cardiac remodeling.
- To investigate the role of MYH6 in PFOS-induced cardiac changes.
Main Methods:
- Integrated transcriptomic screening, machine learning, molecular docking, and molecular dynamics simulations.
- Utilized cross-species cardiac single-cell atlases and a mouse exposure model.
- Analyzed MYH6 expression changes and cardiac structural alterations in response to PFOS.
Main Results:
- MYH6 was consistently identified as a prioritized molecular node in cardiomyocytes across human and mouse datasets.
- Molecular modeling supported a direct interaction between PFOS and MYH6.
- PFOS exposure in mice led to decreased Myh6 expression, increased septal asymmetry, and interstitial fibrosis.
- Other PFAS compounds showed varying potential for MYH6 interaction.
Conclusions:
- MYH6 is a strong candidate molecular node implicated in PFOS-associated hypertrophic cardiomyopathy-like cardiac remodeling.
- The findings propose a testable hypothesis for the adverse outcome pathway of PFAS cardiotoxicity.
