Related Experiment Video

Updated: Jan 31, 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

Proteomic Analysis of the Myocardium in Hypertrophic Obstructive Cardiomyopathy

Caroline J Coats1,2, Wendy E Heywood2, Alex Virasami3

  • 1University College London Institute of Cardiovascular Science, London, United Kingdom (C.J.C., P.S., T.A.T., J.C.M., L.R.L., C.G.A.M., W.J.M., P.M.E.).

Circulation. Genomic and Precision Medicine
|December 19, 2018
PubMed

Insights

This study explored the protein profiles in hypertrophic cardiomyopathy (HCM) hearts, revealing altered metabolism and structural proteins. Lumican, a protein found at higher levels in HCM, may contribute to myocardial fibrosis in this complex heart disease.

Area of Science:

  • Cardiology
  • Proteomics
  • Genetics

Background:

  • Hypertrophic cardiomyopathy (HCM) presents a complex phenotype not fully explained by genetic variants alone.
  • Exploring the post-genomic phenotype through myocardial tissue proteomic analysis is crucial for understanding HCM.
  • This study investigates the proteomic landscape of HCM to uncover underlying molecular mechanisms.

Purpose of the Study:

  • To utilize proteomic analysis of myocardial tissue to explore the post-genomic phenotype of hypertrophic cardiomyopathy (HCM).
  • To identify differentially expressed proteins in HCM myocardial samples compared to controls.
  • To correlate protein expression with clinical and genetic characteristics of HCM.

Main Methods:

  • Label-free proteomic analysis was performed on myocardial samples from HCM patients and healthy controls.
  • Differentially expressed proteins were validated using targeted multiple reaction monitoring-based mass spectrometry.
  • A cohort of 65 individuals (51 HCM, 7 controls, 7 aortic stenosis) was used for validation.

Main Results:

  • 1586 proteins were identified, with 151 proteins showing differential expression in HCM versus controls (P<0.05).
  • Proteins involved in metabolism, muscle contraction, calcium regulation, and oxidative stress were identified.
  • Upregulated proteins in HCM included lumican, carbonic anhydrase 3, desmin, α-actin skeletal, and FHL1; downregulated proteins included creatine kinase M-type, fructose-bisphosphate aldolase A, and phosphoglycerate mutase.

Conclusions:

  • The myocardial proteome in HCM supports the dysregulation of metabolic and structural proteins.
  • Elevated lumican levels in HCM hearts offer insights into the myocardial fibrosis characteristic of the disease.
  • Proteomic profiling provides a deeper understanding of the complex molecular pathology in hypertrophic cardiomyopathy.
Abstract

Keywords:
cardiomyopathiesfibrosishypertrophyproteome

More Related Videos

Laser Microdissection-Based Protocol for the LC-MS/MS Analysis of the Proteomic Profile of Neuromelanin Granules07:35

Laser Microdissection-Based Protocol for the LC-MS/MS Analysis of the Proteomic Profile of Neuromelanin Granules

Published on: December 16, 2021

2.8K
Author Spotlight: Advancing the Analysis of Plasma Extracellular Vesicle Proteome for Cardiovascular Biomarker Studies05:30

Author Spotlight: Advancing the Analysis of Plasma Extracellular Vesicle Proteome for Cardiovascular Biomarker Studies

Published on: January 31, 2025

1.1K

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...
488
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,...
566
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...
532
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
442
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...
605
Cardiomyopathy VI: Nursing Management01:29

Cardiomyopathy VI: Nursing Management

Assessment: Nursing management of patients with cardiomyopathy begins with a thorough assessment of the patient's history, including a family history of cardiomyopathy or sudden cardiac death, personal history of heart disease, hypertension, diabetes, and any alcohol consumption or drug use.During the physical examination, assess vital signs, look for signs of heart failure (such as edema, jugular venous distention, and cyanosis), auscultate for abnormal heart sounds (like murmurs and gallops),...
354