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Related Concept Videos

Types of Intermediate Filaments01:31

Types of Intermediate Filaments

The intermediate filaments are an essential component of the cytoskeleton. Presently six types of intermediate filament have been identified. Type I and II are acidic and basic keratin proteins. Type III is of mesodermal origin and comprises four proteins: vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Vimentin is commonly found in mesenchymal cells, desmin in muscle cells, GFAP in astrocytes, while peripherin is found in peripheral nervous system neurons (PNS). Type...
The Structure of Intermediate Filaments01:19

The Structure of Intermediate Filaments

The intermediate filaments are one of three widely studied cytoskeletal filaments. They are so named as their diameter (10 nm) is in between that of microfilaments (7 nm) and the microtubules (25 nm).  These filaments are highly stable and can remain intact when exposed to high salt concentrations and detergents. These filaments are responsible for providing stability and mechanical support to the cells. They also help in cell adhesion and maintaining tissue integrity.
Intermediate filaments...
Disassembly of Intermediate Filaments01:35

Disassembly of Intermediate Filaments

Intermediate filaments (IFs) do not undergo spontaneous disassembly. Enzymes, kinases, and phosphatases add and remove phosphates from specific sites to regulate their disassembly. The IF concentration in the cytoplasm also regulates the disassembly. If the concentration crosses a threshold, it activates the protein kinases in the vicinity, allowing the phosphorylation of IFs.
Keratin proteins, found at the cell periphery near cell junctions, undergo a cycle of assembly and disassembly. In Type...
Desmosomes01:05

Desmosomes

The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
Formation of Intermediate Filaments00:57

Formation of Intermediate Filaments

Intermediate filaments are cytoskeletal proteins with higher tensile strength and flexibility than microfilaments and microtubules. Unlike the other two cytoskeletal proteins, intermediate filament formation lacks the enzymatic activity to hydrolyze nucleotides like ATP and GTP to generate energy for polymerization. Therefore, the formation of intermediate filaments is multistep self-assembly. The involvement of any accessory proteins in intermediate filament formation has not yet been reported.
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...

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Related Experiment Video

Updated: Jun 26, 2026

Minimally Invasive Muscle Embedding (MIME) - A Novel Experimental Technique to Facilitate Donor-Cell-Mediated Myogenesis
09:17

Minimally Invasive Muscle Embedding (MIME) - A Novel Experimental Technique to Facilitate Donor-Cell-Mediated Myogenesis

Published on: August 24, 2017

Intermediate filament diseases: desminopathy.

Lev G Goldfarb1, Montse Olivé, Patrick Vicart

  • 1National Institutes of Health, Bethesda, MD 20892-9404, USA. goldfarbl@ninds.nih.gov

Advances in Experimental Medicine and Biology
|February 3, 2009
PubMed
Summary
This summary is machine-generated.

Desminopathy, a muscle disorder, arises from mutations in desmin (DES) or alphaB-crystallin (CRYAB) genes. These mutations disrupt intermediate filament networks, leading to progressive muscle weakness and heart conditions.

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Isolation of Intermediate Filament Proteins from Multiple Mouse Tissues to Study Aging-associated Post-translational Modifications
09:29

Isolation of Intermediate Filament Proteins from Multiple Mouse Tissues to Study Aging-associated Post-translational Modifications

Published on: May 18, 2017

Related Experiment Videos

Last Updated: Jun 26, 2026

Minimally Invasive Muscle Embedding (MIME) - A Novel Experimental Technique to Facilitate Donor-Cell-Mediated Myogenesis
09:17

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Published on: August 24, 2017

Isolation of Intermediate Filament Proteins from Multiple Mouse Tissues to Study Aging-associated Post-translational Modifications
09:29

Isolation of Intermediate Filament Proteins from Multiple Mouse Tissues to Study Aging-associated Post-translational Modifications

Published on: May 18, 2017

Area of Science:

  • Muscle Disorders
  • Genetics
  • Cardiology

Background:

  • Desminopathy is a common intermediate filament disorder.
  • It is caused by mutations in desmin (DES) and alphaB-crystallin (CRYAB) genes.
  • Inheritance can be autosomal dominant or recessive, with de novo mutations also occurring.

Purpose of the Study:

  • To summarize the clinical presentation and genetic basis of desminopathy.
  • To investigate the impact of mutations on desmin filament assembly.
  • To highlight the role of alphaB-crystallin in desminopathies.

Main Methods:

  • Review of clinical cases and genetic analyses of desminopathy patients.
  • Analysis of desmin and alphaB-crystallin protein interactions.
  • Filament and network assembly studies of mutant desmin.

Main Results:

  • Desminopathy presents with progressive muscle weakness and cardiomyopathy.
  • Mutations in DES and CRYAB cause similar skeletal and cardiac myopathies.
  • Most mutations impair desmin assembly and disrupt existing networks in a dominant-negative manner.

Conclusions:

  • Desminopathies result from defects in the desmin intermediate filament network.
  • Understanding mutation effects on protein assembly is crucial for disease mechanisms.
  • AlphaB-crystallin mutations mimic desmin mutations, underscoring protein interactions.