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

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

393
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...
393
Structure of Cardiac Muscles01:13

Structure of Cardiac Muscles

16.6K
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...
16.6K
Specialized Characteristics of Cardiac Muscles01:27

Specialized Characteristics of Cardiac Muscles

3.9K
The primary role of cardiac muscles is to propel blood throughout the cardiovascular system. The cardiac muscle cells, or cardiomyocytes, exhibit specialized characteristics that allow them to perform this function.
Cardiac muscle cells are smaller than skeletal muscles, averaging 10–20 mm in diameter and 50–100 mm in length. However, they have large energy demands for continuous contraction and relaxation. This energy is almost exclusively derived from aerobic metabolism of energy...
3.9K
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

2.3K
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...
2.3K
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

1.7K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
1.7K

You might also read

Related Articles

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

Sort by
Same author

Rare coding variant architecture and gene discovery from 130,000 sequenced cases of atrial fibrillation.

Research square·2026
Same author

Truncating Variants in <i>TTN</i> are Associated With Primary Atrial Myopathy.

Journal of the American Heart Association·2026
Same author

Convergent evolution of scavenger cell development at brain borders.

Nature·2026
Same author

Deep-learning analysis of 3D microarchitectural remodeling in hypertrophic cardiomyopathy.

Science (New York, N.Y.)·2026
Same author

Phosphoproteomics of aged insulin-resistant bone identifies P70S6K phosphorylation of AFF4 as a gene-specific transcriptional regulator.

Nature communications·2025
Same author

Bradycardia in Athletes: Prevalence, Mechanisms, and Risks.

Circulation·2025

Related Experiment Video

Updated: Jan 13, 2026

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
05:58

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

41.2K

Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin (ttn.2)

Celine F Santiago1,2, Inken G Huttner1,2, Ailbhe O Brien3

  • 1Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia (C.F.S., I.G.H., J.C., R.C., G.T., L.W.W., D.F.).

Circulation Research
|January 7, 2026
PubMed
Summary

Truncating variants in the TTN gene cause muscle disorders, with location impacting severity. Zebrafish models show variant location and protein levels influence cardiac and skeletal muscle dysfunction.

Keywords:
cardiomyopathiesconnectin (titin)muscular diseasessarcomereszebrafish

More Related Videos

In Vitro Assessment of Cardiac Function Using Skinned Cardiomyocytes
08:19

In Vitro Assessment of Cardiac Function Using Skinned Cardiomyocytes

Published on: June 22, 2020

7.0K
Author Spotlight: Mitochondrial Remodeling in Skeletal Muscle
10:53

Author Spotlight: Mitochondrial Remodeling in Skeletal Muscle

Published on: December 1, 2023

4.3K

Related Experiment Videos

Last Updated: Jan 13, 2026

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
05:58

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

41.2K
In Vitro Assessment of Cardiac Function Using Skinned Cardiomyocytes
08:19

In Vitro Assessment of Cardiac Function Using Skinned Cardiomyocytes

Published on: June 22, 2020

7.0K
Author Spotlight: Mitochondrial Remodeling in Skeletal Muscle
10:53

Author Spotlight: Mitochondrial Remodeling in Skeletal Muscle

Published on: December 1, 2023

4.3K

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Biology
  • Muscle Physiology

Background:

  • Truncating variants in the TTN gene (TTNtv) are linked to cardiac and skeletal muscle disorders.
  • The precise impact of TTN variant location on disease manifestation remains unclear.

Purpose of the Study:

  • To investigate how the location of TTN truncating variants affects titin protein expression and leads to muscle dysfunction.
  • To elucidate the role of different titin regions in cardiac and skeletal muscle integrity using a zebrafish model.

Main Methods:

  • Generated six zebrafish lines with truncating ttn.2 variants in distinct titin regions (Z-disk, I-band, A-band, M-band).
  • Assessed titin transcript and protein levels via qPCR and proteomics.
  • Analyzed embryonic and adult phenotypes, including cardiac function and skeletal muscle motility.

Main Results:

  • Homozygous mutants, except for C-terminal variants, exhibited reduced titin transcripts and died by 10 days postfertilization with cardiac defects.
  • Skeletal muscle defects were more severe with truncations distal to the cronos promoter.
  • Heterozygous A-band mutants showed reduced resting ventricular contraction, while Z-disk and I-band mutants lacked cardiac reserve under stress.

Conclusions:

  • Cardiac and skeletal muscle dysfunction from TTNtv variants depend on variant location, age, and residual functional titin protein.
  • Distal C-terminal truncations may have unique impacts due to differing titin region requirements in various muscle types.