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

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.
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
Nervous Tissue: Myelin01:25

Nervous Tissue: Myelin

The myelin sheath is a multilayered lipid and protein covering that insulates the axon of a neuron, enhancing the speed of nerve impulse conduction. Axons without this sheath are referred to as unmyelinated. Two types of neuroglia, Schwann cells in the peripheral nervous system (PNS) and oligodendrocytes in the central nervous system (CNS) are responsible for producing myelin sheaths.
Schwann cells begin to form myelin sheaths around axons during fetal development. They wrap around a small...
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
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...
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...

You might also read

Related Articles

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

Sort by
Same author

Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias.

Brain communications·2026
Same author

Missense variants in TUBA4A cause myo-tubulinopathies.

Brain : a journal of neurology·2026
Same author

Monoclonal Gammopathy - the common denominator of sporadic late-onset nemaline myopathy and paraproteinemic neuropathy.

Neuromuscular disorders : NMD·2026
Same author

Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with <i>RFC1</i> expansions.

Brain communications·2025
Same author

Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.

Journal of the peripheral nervous system : JPNS·2025
Same author

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

The Journal of clinical investigation·2025

Related Experiment Video

Updated: Jun 22, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Actinopathies and myosinopathies.

Hans H Goebel1, Nigel G Laing

  • 1Department of Neuropathology, University Medicine, Johannes Gutenberg University, Mainz, Germany. goebel@neuropatho.klinik.uni-mainz.de

Brain Pathology (Zurich, Switzerland)
|July 1, 2009
PubMed
Summary

This study differentiates actinopathies and myosinopathies, two protein aggregate myopathies. Actinopathies (ACTA1 gene) cause severe early-onset disease, while myosinopathies (MYH7 gene) have a slower progression.

Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Myopathies are muscle disorders characterized by protein aggregation.
  • Two main types of
  • anabolic
  • protein aggregate myopathies are recognized: actinopathies and myosinopathies.

Purpose of the Study:

  • To distinguish between actinopathies and myosinopathies based on genetic cause, protein aggregate characteristics, and clinical presentation.
  • To provide a clear classification of these rare genetic muscle diseases.

Main Methods:

  • Review of existing literature on actinopathies and myosinopathies.
  • Analysis of genetic mutations (ACTA1, MYH7) and their associated protein aggregates.
  • Correlation of genotype with clinical phenotypes, including age of onset and disease progression.

More Related Videos

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
08:07

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin

Published on: March 24, 2023

Preparation and Immunostaining of Myelinating Organotypic Cerebellar Slice Cultures
09:41

Preparation and Immunostaining of Myelinating Organotypic Cerebellar Slice Cultures

Published on: March 20, 2019

Related Experiment Videos

Last Updated: Jun 22, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
08:07

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin

Published on: March 24, 2023

Preparation and Immunostaining of Myelinating Organotypic Cerebellar Slice Cultures
09:41

Preparation and Immunostaining of Myelinating Organotypic Cerebellar Slice Cultures

Published on: March 20, 2019

Main Results:

  • Actinopathies result from ACTA1 gene mutations, often de novo, leading to actin filament aggregates and severe, early-onset congenital disease with rapid progression.
  • Myosinopathies stem from MYH7 gene mutations, characterized by granular protein aggregates and a more protracted clinical course, typically starting in childhood.
  • Clinical outcomes differ significantly, with actinopathy patients often succumbing within the first two years of life, whereas myosinopathy patients experience a slower disease trajectory.

Conclusions:

  • Actinopathies and myosinopathies represent distinct entities within protein aggregate myopathies.
  • Genetic mutations in ACTA1 and MYH7 are key determinants of disease type, aggregate composition, and clinical severity.
  • Understanding these distinctions is crucial for accurate diagnosis and management of affected individuals.