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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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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...
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Cardiomyopathy I: Introduction and Classification01:25

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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...
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Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

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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,...
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Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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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...
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Structure of Cardiac Muscles01:13

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Cardiac muscle, or myocardium, is a specialized type of muscle found exclusively in the heart. Its unique structural and functional characteristics enable the heart to perform its vital role of pumping blood throughout the body continuously and rhythmically. The cardiac muscle cells, or cardiomyocytes, possess an endomysium and perimysium but do not have an epimysium.
Compared to skeletal muscles, cardiac muscle cells are small and mostly have a single nucleus. Additionally, they are usually...
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

Adam S Helms1, Frank M Davis1, David Coleman1

  • 1From the Departments of Internal Medicine (A.S.H., F.D., D.C., S.B., J.M.Y., S.M.D.), Molecular and Integrative Physiology (A.A.G., M.V.W.), Cardiac Surgery (F.P., M.V.W.), Sequencing Core (E.P., R.L.), and Pediatrics (M.W.R.), University of Michigan, Ann Arbor; Department of Cell and Molecular Physiology, Health Sciences Division, Loyola University Chicago, Maywood, IL (S.S.); and MS Bioworks, Ann Arbor, MI (R.J.).

Circulation. Cardiovascular Genetics
|July 18, 2014
PubMed
Summary

Genetic mutations in hypertrophic cardiomyopathy (HCM) show varied effects. MYBPC3 truncating mutations do not cause haploinsufficiency, and sarcomere protein levels vary by mutation type, influencing disease.

Keywords:
cardiomyopathy, hypertrophicgene expressiongene expression regulationhumansproteomicssarcomeres

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Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology

Background:

  • Hypertrophic cardiomyopathy (HCM) is often linked to heterozygous sarcomere gene mutations.
  • These mutations are traditionally classified as gain-of-function (missense) or loss-of-function (truncating).
  • Allelic expression of these mutations in human HCM requires further characterization.

Purpose of the Study:

  • To investigate the allelic expression and protein levels of sarcomere genes in HCM patients.
  • To determine if truncating mutations uniformly lead to haploinsufficiency.
  • To explore mutation-specific effects on sarcomere protein stoichiometry and potential disease influence.

Main Methods:

  • Analysis of sarcomere transcript and protein levels in human heart tissues (septal myectomy, transplant) from HCM patients and controls.
  • Genotyping of HCM patients to identify sarcomere gene mutations.
  • Quantification of mutant:wild-type transcript ratios and absolute protein abundance using multiple reaction monitoring.

Main Results:

  • Nonsense transcripts from MYBPC3 truncating mutations were unstable (mutant:wild-type ratio ≈1:5).
  • Total MYBPC3 mRNA was significantly upregulated (9-fold) in HCM patients with MYBPC3 mutations.
  • Full-length MYBPC3 protein levels were unchanged, and no truncated proteins were detected; however, mutant sarcomere protein fractions varied widely (30%–84%) in a mutation-specific manner.

Conclusions:

  • The findings challenge the haploinsufficiency model for MYBPC3 truncating mutations in HCM.
  • Allelic imbalance in missense mutations suggests variable protein stability or incorporation into sarcomeres.
  • Mutation-specific properties of sarcomere proteins likely contribute to distinct HCM disease phenotypes.