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 Experiment Videos

Myopathies resulting from mutations in sarcomeric proteins.

Carsten G Bönnemann1, Nigel G Laing

  • 1Division of Neurology and Pennsylvania Muscle Institute, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. bonnemann@email.chop.edu

Current Opinion in Neurology
|September 16, 2004
PubMed
Summary

Mutations in sarcomere protein components cause numerous human muscle diseases. Molecular analysis offers precise definitions, but diagnosis for nebulin and titin gene mutations remains challenging, hindering treatment development.

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

Use of organ transplant solution to preserve skeletal muscle for cellular and spatial transcriptomic analyses.

Scientific reports·2026
Same author

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

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

A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

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

Adeno-Associated Virus Gene Therapy Translation: Lessons from Early Regulatory Meetings.

Human gene therapy·2026
Same author

Meeting report: 2025 muscular dystrophy association summit on 'safety and challenges in gene therapy of neuromuscular diseases'.

Journal of neuromuscular diseases·2026
Same author

Training Together, Diagnosing Better: Federated Learning for Collagen VI-Related Dystrophies.

ArXiv·2026

Area of Science:

  • Muscle biology
  • Molecular genetics
  • Human disease pathology

Background:

  • The sarcomere, the fundamental contractile unit of muscle, is increasingly recognized as a critical site for genetic mutations causing muscle disorders.
  • Understanding the molecular basis of sarcomere dysfunction is essential for diagnosing and treating inherited myopathies.

Purpose of the Study:

  • To provide an overview of the precise molecular definitions of muscle diseases caused by mutations in sarcomere protein components.
  • To highlight recent advancements in understanding the sarcomere's role in muscle gene expression and disease pathogenesis.

Main Methods:

  • Review of recent scientific literature on sarcomere protein mutations and associated muscle diseases.
  • Analysis of molecular findings, including genetic mutations in actin, myosin, and myotilin.

Related Experiment Videos

  • Discussion of diagnostic challenges for large sarcomeric genes like nebulin and titin.

    • Main Results:

    • Mutations in major sarcomere protein components are a significant cause of human muscle diseases.
    • New insights into the sarcomere's role in regulating muscle gene expression have emerged.
    • Specific mutations identified in actin, myosin, and myotilin are linked to distinct myopathies, including hereditary inclusion body myopathy, hyaline body myopathy, and myofibrillar myopathy.

    Conclusions:

    • A growing spectrum of muscle diseases is attributable to mutations in sarcomere proteins.
    • Molecular diagnostics are improving disease delineation, yet challenges persist for large genes.
    • Further understanding of sarcomere biology and disease mechanisms is crucial for developing effective therapeutic strategies.