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Alternative RNA Splicing

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There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

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

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

Published on: August 8, 2022

MYH7 Mutations in Restrictive Cardiomyopathy.

Yiqi Zhao¹, Shun Liu¹, Han Mo²

¹Department of Cardiovascular Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

|April 26, 2025

Summary

Genetic variations, especially MYH7 mutations, are key drivers of restrictive cardiomyopathy (RCM) progression and the need for heart transplantation (HTx). Identifying these genetic factors can guide early interventions for RCM patients.

Keywords:

MYH7 heart transplantation restrictive cardiomyopathy

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Functional Characterization of Endogenously Expressed Human RYR1 Variants

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

Area of Science:

Cardiology
Genetics
Pathology

Background:

Restrictive cardiomyopathy (RCM) is a rare cardiac condition affecting ventricular filling.
It is characterized by impaired relaxation with preserved systolic function.
This study explores the genetic underpinnings of RCM and its link to heart transplantation (HTx).

Purpose of the Study:

To identify genetic variations associated with RCM.
To evaluate the impact of these variations on disease progression.
To determine the necessity for heart transplantation (HTx) in RCM patients.

Main Methods:

Retrospective analysis of 94 RCM patients diagnosed between 2003-2021.
Whole exome sequencing to identify genetic variants in key RCM-associated genes.
Histopathological analysis of explanted hearts, including fibrosis quantification via Masson's trichrome staining.

Main Results:

Genetic variants were found in 54% of RCM patients, more prevalent in those needing HTx (73%).
MYH7 mutations, identified in 15% of cases, significantly correlated with HTx (P < 0.001) and atrial fibrillation (P = 0.025).
MYH7 mutation carriers showed increased interventricular septum fibrosis and were diagnosed/transplanted at younger ages.

Conclusions:

Genetic variations, particularly MYH7 mutations, are significant risk factors for RCM progression and heart transplantation.
Genetic screening can aid in early RCM intervention strategies.
Fibrosis and MYH7 pathways represent potential therapeutic targets for RCM.