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Updated: Jun 23, 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

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Genetic Mutations and Mitochondrial Redox Signaling as Modulating Factors in Hypertrophic Cardiomyopathy: A Scoping

Antonio da Silva Menezes Junior1, Ana Luísa Guedes de França-E-Silva1, Henrique Lima de Oliveira1

  • 1Faculdade de Medicina, Departamento de Clínica Médica, Universidade Federal de Goiás (UFG), Goiânia 74020-020, Brazil.

International Journal of Molecular Sciences
|June 19, 2024
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) involves cellular and mitochondrial dysfunction. Targeting these mitochondrial issues offers promising new treatments for this heart condition, as current options are limited.

Area of Science:

  • Cardiology
  • Mitochondrial Biology
  • Genetics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a heart disease marked by cellular and metabolic issues.
  • Mitochondrial dysfunction is a key factor in HCM pathogenesis, irrespective of the underlying cause.
  • Current HCM treatments primarily manage symptoms and prevent complications, lacking disease-modifying therapies.

Purpose of the Study:

  • To review the role of mitochondrial dysfunction in hypertrophic cardiomyopathy.
  • To explore potential therapeutic strategies targeting mitochondrial pathways for HCM.
  • To understand the biomolecular and genetic underpinnings of HCM for novel treatment development.

Main Methods:

  • Systematic literature search adhering to PRISMA-ScR guidelines.
  • Searches conducted in PubMed, Embase, and Scopus databases up to September 2023.
  • Inclusion of bibliographic references from relevant articles.

Main Results:

  • Mitochondrial dysfunction is a common pathway in HCM, linked to calcium handling, energy production, and oxidative stress.
  • Genetic mutations contribute to HCM, but their direct link to mitochondrial dysfunction requires further clarification.
  • Emerging therapies focus on enhancing mitochondrial function, including coenzyme Q, elamipretide, and metabolic interventions like ketosis.

Conclusions:

  • Mitochondrial dysfunction is a central mechanism in hypertrophic cardiomyopathy.
  • Targeting mitochondrial bioenergetics and metabolic pathways presents a promising avenue for novel HCM therapies.
  • Further research into the genetic and molecular basis of HCM is essential for advancing treatment options.

Keywords:
hypertrophic cardiomyopathymetabolismmitochondrial dysfunctionmitochondrial redox signaling

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