Related Experiment Video

Updated: Oct 4, 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

3.8K

Dysfunctional Network and Mutation Genes of Hypertrophic Cardiomyopathy

Yunwen Cui1, Cheng Liu1, Jian Luo1

  • 1The First Affiliated Hospital of Xinjiang Medical University, No. 1 Liyushan Road, Xinshi, Urumqi 830054, China.

Journal of Healthcare Engineering
|February 7, 2022
PubMed

Insights

This study identifies key genes and pathways involved in hypertrophic cardiomyopathy (HCM). PRMT5 mutations are highlighted as potential diagnostic and therapeutic targets for this common familial heart disease.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Systems Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a complex, often familial myocardial disease with varied presentation.
  • Identifying the underlying genetic and molecular mechanisms of HCM is crucial for diagnosis and treatment.

Purpose of the Study:

  • To analyze the dysfunctional gene network in hypertrophic cardiomyopathy (HCM).
  • To screen for key target genes with diagnostic and therapeutic significance in HCM.

Main Methods:

  • Downloaded and analyzed gene expression profiles (GSE130036) to identify differentially expressed genes in HCM.
  • Utilized enrichment analysis, protein-protein interaction (PPI) network construction, and single-nucleotide variant (SNV) screening (maftools).
  • Verified gene expression trends using an independent dataset (GSE36961) and quantitative real-time polymerase chain reaction (qRT-PCR).

Main Results:

  • Identified 920 differentially expressed genes, primarily linked to metabolism-related pathways.
  • Discovered 187 interacting genes via PPI network analysis, with specific genes (C1QB, F13A1, CD163, FCN3, PLA2G2A, CHRDL2) showing diagnostic potential.
  • Found PRMT5 mutations to be frequent in HCM samples, suggesting a role in pathogenesis.

Conclusions:

  • The identified key genes and pathways offer insights into HCM's development mechanism.
  • PRMT5 mutations represent a promising therapeutic and diagnostic target for hypertrophic cardiomyopathy.
  • This research provides a quantitative assessment for functional limitations in HCM patients.
Abstract

More Related Videos

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

5.8K
Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix10:21

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix

Published on: June 14, 2016

10.2K

Related Concept Videos

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...
79
Heart Failure II: Pathophysiology01:29

Heart Failure II: Pathophysiology

Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
91
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...
103
Pathophysiology of Heart Failure01:17

Pathophysiology of Heart Failure

Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. The...
1.9K
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,...
51
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...
52