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Related Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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...
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
Histone Modification02:32

Histone Modification

The histone proteins have a flexible N-terminal tail extending out from the nucleosome. These histone tails are often subjected to post-translational modifications such as acetylation, methylation, phosphorylation, and ubiquitination. Particular combinations of these modifications form “histone codes” that influence the chromatin folding and tissue-specific gene expression.
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone deacetylase,...

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Related Experiment Video

Updated: May 20, 2026

Identification of MyoD Interactome Using Tandem Affinity Purification Coupled to Mass Spectrometry
14:47

Identification of MyoD Interactome Using Tandem Affinity Purification Coupled to Mass Spectrometry

Published on: May 17, 2016

Epigenetic alterations in muscular disorders.

Chiara Lanzuolo1

  • 1CNR Institute of Cellular Biology and Neurobiology, IRCCS Santa Lucia Foundation, Via Del Fosso di Fiorano 64, 00143 Rome, Italy.

Comparative and Functional Genomics
|July 5, 2012
PubMed
Summary

Epigenetic mechanisms regulate gene expression and are crucial for cell identity. Altered epigenetic patterns in neuromuscular disorders offer potential therapeutic targets for disease intervention.

Area of Science:

  • Molecular Biology
  • Genetics
  • Epigenetics

Background:

  • Epigenetic mechanisms, involving chromatin organization, establish and maintain cell-specific transcription programs.
  • While normal epigenetic functions are increasingly understood, their role in disease remains less clear.
  • Aberrant gene expression is linked to various diseases, highlighting the need for epigenetic insights from patient studies.

Purpose of the Study:

  • To explore the role of epigenetic mechanisms in neuromuscular disorders.
  • To identify potential therapeutic targets by understanding aberrant epigenetic modifications.
  • To discuss how epigenetic alterations contribute to disease pathogenesis and progression.

Main Methods:

  • Review of current literature on epigenetic mechanisms.

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Isolation and Differentiation of Primary Myoblasts from Mouse Skeletal Muscle Explants
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Isolation and Differentiation of Primary Myoblasts from Mouse Skeletal Muscle Explants

Published on: October 15, 2019

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Last Updated: May 20, 2026

Identification of MyoD Interactome Using Tandem Affinity Purification Coupled to Mass Spectrometry
14:47

Identification of MyoD Interactome Using Tandem Affinity Purification Coupled to Mass Spectrometry

Published on: May 17, 2016

Isolation and Differentiation of Primary Myoblasts from Mouse Skeletal Muscle Explants
06:53

Isolation and Differentiation of Primary Myoblasts from Mouse Skeletal Muscle Explants

Published on: October 15, 2019

  • Analysis of epigenetic alterations in the context of neuromuscular disorders.
  • Discussion of potential therapeutic strategies targeting epigenetic modifications.

    • Main Results:

    • Epigenetic mechanisms play a significant role in regulating gene expression.
    • Abnormal epigenetic patterns are implicated in the development and progression of neuromuscular disorders.
    • Pharmacological targeting of epigenetic modifications offers a potential therapeutic avenue without altering DNA sequences.

    Conclusions:

    • Epigenetic alterations are key contributors to neuromuscular disorder pathogenesis.
    • Understanding these epigenetic changes can guide the development of novel therapeutic interventions.
    • Targeting epigenetic modifications represents a promising strategy for treating neuromuscular diseases.