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

You might also read

Related Articles

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

Sort by
Same author

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.

medRxiv : the preprint server for health sciences·2026
Same author

Turbocharging synaptic transmission: 12 SNAREpins are required for rapid release of reconstituted synaptic vesicles.

Science advances·2026
Same author

Access to care for adults living with spinal muscular atrophy in the UK.

BMJ neurology open·2026
Same author

<i>Kbtbd13</i> knockdown restores muscle function in a clinically relevant mouse model of nemaline myopathy type 6.

Science translational medicine·2026
Same author

Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies.

European journal of human genetics : EJHG·2026
Same author

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

The New England journal of medicine·2026

Related Experiment Video

Updated: Aug 19, 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

3.4K

Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.

Enrico Bugiardini1, Andreia M Nunes2, Ariany Oliveira-Santos2

  • 1Queen Square Centre for Neuromuscular Diseases Queen Square Institute of Neurology, UCL and National Hospital for Neurology and Neurosurgery London United Kingdom.

Journal of the American Heart Association
|November 29, 2022
PubMed
Summary
This summary is machine-generated.

Loss of integrin α7β1 causes adult-onset cardiac dysfunction and respiratory issues. This study reveals its critical role in heart function, necessitating cardiac monitoring for patients with ITGA7 mutations.

Keywords:
cardiomyopathycongenital muscular dystrophycongenital myopathyintegrin α7

More Related Videos

In utero Measurement of Heart Rate in Mouse by Noninvasive M-mode Echocardiography
08:01

In utero Measurement of Heart Rate in Mouse by Noninvasive M-mode Echocardiography

Published on: November 22, 2013

11.5K
Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

2.7K

Related Experiment Videos

Last Updated: Aug 19, 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

3.4K
In utero Measurement of Heart Rate in Mouse by Noninvasive M-mode Echocardiography
08:01

In utero Measurement of Heart Rate in Mouse by Noninvasive M-mode Echocardiography

Published on: November 22, 2013

11.5K
Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

2.7K

Area of Science:

  • Muscle Biology
  • Cardiovascular Genetics
  • Integrin Signaling

Background:

  • Integrin α7β1 is a key laminin receptor in skeletal and cardiac muscle.
  • It plays roles in muscle development and disease modification.
  • Its specific function in the heart remains largely unknown.

Purpose of the Study:

  • Investigate the role of integrin α7β1 in cardiac function.
  • Characterize muscle pathology in the absence of integrin α7.
  • Determine the clinical impact of ITGA7 mutations.

Main Methods:

  • Studied pathology in Itga7-/- mice and patients with ITGA7 mutations.
  • Utilized electrocardiography, echocardiography, and cardiac MRI.
  • Performed histological analysis of muscle biopsies.

Main Results:

  • ITGA7 mutations lead to absent integrin α7 protein, confirming pathogenicity.
  • Patients showed cardiac dysrhythmia and dysfunction from the third decade.
  • Mice exhibited cardiac conduction/contraction abnormalities and diaphragm fibrosis.

Conclusions:

  • Loss of integrin α7β1 results in a novel form of adult-onset cardiac dysfunction.
  • Integrin α7β1 is critical for normal cardiac function.
  • Long-term cardiac monitoring is essential for ITGA7-related myopathy patients.