Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Desmosomes01:05

Desmosomes

The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
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,...
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Decreasing Microtubule Detyrosination Improves Cardiac Mechanics and Sodium Channel Function in Arrhythmogenic Cardiomyopathy.

Circulation. Arrhythmia and electrophysiology·2026
Same author

Empirically determined baseline masking strategies and other considerations for gene-level burden tests.

Nature genetics·2026
Same author

Multi-trait polygenic risk scores improve genomic prediction of atrial fibrillation across diverse ancestries.

Nature communications·2026
Same author

Novel cardiovascular metabolic risk factor mechanisms and therapeutic opportunities.

European heart journal·2026
Same author

Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.

Journal of arrhythmia·2026
Same author

Cardiomyopathy Gene Variants and Polygenic Risk Scores in Atrial Fibrillation: Evidence for an Atrial-First Phenotype.

Journal of the American College of Cardiology·2026

Related Experiment Video

Updated: Jun 14, 2026

Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients
09:16

Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients

Published on: February 28, 2018

Cardiac desmosomal (dys)function and myocyte viability.

Carol Ann Remme1, Connie R Bezzina

  • 1Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. c.a.remme@amc.uva.nl

Cell Cycle (Georgetown, Tex.)
|March 23, 2010
PubMed
Summary

Genetic mutations in desmosomal proteins cause arrhythmogenic right ventricular cardiomyopathy (ARVC). Transgenic mouse models are revealing insights into ARVC

More Related Videos

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples
14:39

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples

Published on: April 21, 2014

Isolation and Physiological Analysis of Mouse Cardiomyocytes
11:02

Isolation and Physiological Analysis of Mouse Cardiomyocytes

Published on: September 7, 2014

Related Experiment Videos

Last Updated: Jun 14, 2026

Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients
09:16

Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients

Published on: February 28, 2018

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples
14:39

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples

Published on: April 21, 2014

Isolation and Physiological Analysis of Mouse Cardiomyocytes
11:02

Isolation and Physiological Analysis of Mouse Cardiomyocytes

Published on: September 7, 2014

Area of Science:

  • Cardiovascular Biology
  • Molecular Cardiology
  • Genetic Diseases

Background:

  • Cardiac desmosomes are crucial for cardiomyocyte cell-cell coupling and myocardial tissue function.
  • Mutations in desmosomal proteins are linked to arrhythmogenic right ventricular cardiomyopathy (ARVC).
  • ARVC involves fibrofatty replacement of cardiomyocytes, leading to dysfunction and arrhythmias.

Purpose of the Study:

  • To explore the underlying mechanisms and common pathways in ARVC pathogenesis.
  • To understand how genetic mutations in desmosomal proteins contribute to ARVC.
  • To evaluate the utility of transgenic mouse models in studying ARVC.

Main Methods:

  • Analysis of genetic mutations in desmosomal proteins.
  • Development and study of transgenic mouse models (heterozygous knock-out and overexpression).
  • Investigation of histopathological and subcellular changes over time.

Main Results:

  • Transgenic mouse models offer new insights into ARVC mechanisms.
  • Multiple disease mechanisms may contribute to ARVC pathogenesis.
  • The applicability of these mechanisms across diverse genetic forms of ARVC requires further study.

Conclusions:

  • Understanding ARVC etiopathogenesis is key for developing new therapies.
  • Further research on temporal changes in ARVC is necessary.
  • Targeting desmosomal protein defects may offer therapeutic strategies for ARVC.