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Related Concept Videos

Actin Polymerization and Cell Motility01:13

Actin Polymerization and Cell Motility

Actin is a family of globular proteins that are highly abundant in eukaryotic cells. It makes up approximately 1-5% of total cell protein concentration. Actin monomers polymerize to form a complex network of polarized filaments, the actin cytoskeleton, that plays a crucial role in many cellular processes, including cell motility, division, endocytosis, and metastasis of cancer cells.
Actin cytoskeleton dynamics can produce pushing, pulling, and resistance forces that help the cell to migrate.
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...
Introduction to Actin01:26

Introduction to Actin

Actin is a highly conserved cytoskeletal protein found abundantly in eukaryotic cells. It constitutes 10% weight of the total cellular protein in muscle cells, while in non-muscle cells, it is lower and makes up around 1–5 percent of the total cell protein. Actin found in the unicellular amoebae and complex multicellular animals is around 80% similar, demonstrating their conservation over a billion years of evolution.  Actin coding genes are conserved within species and across different species.
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...
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...
Cross-bridge Cycle01:26

Cross-bridge Cycle

As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.

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Related Experiment Video

Updated: Jun 26, 2026

Aip1p Dynamics Are Altered by the R256H Mutation in Actin
08:57

Aip1p Dynamics Are Altered by the R256H Mutation in Actin

Published on: July 30, 2014

Skeletal muscle alpha-actin diseases.

Kathryn N North1, Nigel G Laing

  • 1Discipline of Paediatrics, Department of Medicine, University of Sydney, Sydney, Australia. kathryn@chw.edu.au

Advances in Experimental Medicine and Biology
|February 3, 2009
PubMed
Summary

Mutations in the skeletal muscle alpha-actin gene (ACTA1) cause congenital myopathies. While many mutations are severe and de novo, milder forms and recessive mutations also exist, offering potential therapeutic avenues.

Area of Science:

  • Muscle physiology
  • Genetics
  • Molecular biology

Background:

  • Skeletal muscle alpha-actin is crucial for muscle contraction, interacting with myosin heavy chains.
  • Over 140 disease-causing mutations in the ACTA1 gene are linked to various congenital myopathies.

Purpose of the Study:

  • To review the spectrum of ACTA1 mutations and associated congenital myopathies.
  • To discuss the clinical severity, inheritance patterns, and potential therapeutic strategies for ACTA1-related myopathies.

Main Methods:

  • Literature review of ACTA1 mutations and congenital myopathies.
  • Analysis of clinical data regarding disease severity and inheritance.

Main Results:

  • ACTA1 mutations cause diverse myopathies like nemaline myopathy and actin myopathy.

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Myo-mechanical Analysis of Isolated Skeletal Muscle
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Myo-mechanical Analysis of Isolated Skeletal Muscle

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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

Related Experiment Videos

Last Updated: Jun 26, 2026

Aip1p Dynamics Are Altered by the R256H Mutation in Actin
08:57

Aip1p Dynamics Are Altered by the R256H Mutation in Actin

Published on: July 30, 2014

Myo-mechanical Analysis of Isolated Skeletal Muscle
08:42

Myo-mechanical Analysis of Isolated Skeletal Muscle

Published on: February 22, 2011

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

  • Mutations range from severe congenital-onset to milder inherited forms, including dominant and recessive patterns.
  • De novo dominant mutations are common, but inherited and recessive forms also occur.

    • Conclusions:

    • ACTA1 mutations represent a significant genetic cause of congenital myopathies with varied clinical presentations.
    • Understanding mutation types and inheritance is key to managing these diseases.
    • Future strategies may involve reducing mutant actin proportion or exploring supportive therapies like exercise and L-tyrosine.