Related Experiment Video

Updated: Feb 19, 2026

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

4.3K

When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies

Mehroz Ehsan1, He Jiang1, Kate L Thomson1

  • 1Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, UK.

Journal of Muscle Research and Cell Motility
|November 10, 2017
PubMed

Insights

Inherited cardiomyopathies are often linked to novel genes. This review highlights key genes like Titin (TTN) and Filamin C (FLNC), emphasizing their crucial signaling roles in the heart and their contribution to cardiac disease.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Cardiomyopathies encompass diverse cardiac disorders with varied phenotypes.
  • A significant portion of cardiomyopathies are inherited genetic conditions.
  • Advancements in high-throughput sequencing have identified novel genes implicated in cardiomyopathies.

Purpose of the Study:

  • To review inherited cardiomyopathies, focusing on specific genes.
  • To explore the roles of Titin (TTN), Four and a Half LIM domain 1 (FHL1), Muscle LIM Protein (CSRP3), Filamin C (FLNC), and Phospholamban (PLN).
  • To highlight the importance of signaling pathways in cardiomyopathy development.

Main Methods:

  • Literature review of inherited cardiomyopathies.
  • Focus on genetic analysis and high-throughput sequencing data.
  • Analysis of signaling functions of selected cardiomyopathy genes.

Main Results:

  • Identified TTN, FHL1, CSRP3, FLNC, and PLN as key genes in inherited cardiomyopathies.
  • These genes, despite diverse functions, share critical signaling roles in the heart.
  • Disturbances in these cardiac signaling networks contribute to cardiomyopathy phenotypes.

Conclusions:

  • Inherited cardiomyopathies are linked to a spectrum of genes with critical cardiac functions.
  • Disruptions in cardiac signaling networks represent a significant mechanism underlying cardiomyopathies.
  • Further research into these genes and pathways can improve diagnosis and treatment of cardiomyopathies.

Keywords:
CardiomyopathiesGenetic pathogenic variantHeartMouse modelsMutationSignallingTitinVariant of unknown significance

More Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.4K
An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

6.2K

Related Concept Videos

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...
640
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...
540
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
608
Myocarditis I: Introduction01:21

Myocarditis I: Introduction

Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
460
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...
616
Mutations01:39

Mutations

Overview
94.7K