Related Experiment Video

Updated: Jul 6, 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

Expression of caveolar components in primary desminopathy

Akiyo Shinde1, Satoshi Nakano, Masashiro Sugawara

  • 1Department of Neurology, Kansai Medical University, 10-15 Fumisono-cho, Moriguchi-city 570-8507, Japan.

Neuromuscular Disorders : NMD
|March 18, 2008
PubMed

Insights

Myofibrillar myopathies involve protein buildup in muscle cells. This study suggests that problems with intracellular trafficking may cause these protein aggregates, impacting muscle function.

Area of Science:

  • Muscle biology
  • Cellular pathology
  • Protein aggregation disorders

Background:

  • Myofibrillar myopathies (MFM) are characterized by the accumulation of diverse proteins within the muscle cytoplasm.
  • A specific MFM subtype involves a heterozygous A337P mutation in the desmin gene.

Observation:

  • Electron microscopy revealed vesicular and tubular aggregates in affected muscle cells.
  • Immunohistochemistry and toxin binding indicated caveolin-3 and caveolae within these aggregates.

Findings:

  • The presence of caveolae in aggregates suggests a potential defect in their trafficking.
  • This defect may involve inhibited transport to the sarcolemma or trapping during internalization.

Implications:

  • Inhibited intracellular trafficking is hypothesized as a contributing factor to protein accumulation in MFM.
  • Understanding these trafficking defects could reveal new therapeutic targets for myofibrillar myopathies.

More Related Videos

Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy11:03

Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy

Published on: December 8, 2021

Isolation of Primary Murine Skeletal Muscle Microvascular Endothelial Cells11:57

Isolation of Primary Murine Skeletal Muscle Microvascular Endothelial Cells

Published on: March 6, 2019

Related Concept Videos

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...
Structure of Cadherins01:25

Structure of Cadherins

The cadherins were one of the first cell adhesion molecules discovered; the term “cadherins”   is based on their calcium-dependent adhering properties. The first cadherins discovered on the epithelial, neuronal, and placental cells were named E-cadherin, P-cadherin, and N-cadherin, respectively. These classical cadherins share sequence and structural similarities. Other cadherins, including those involved in cell signaling, are grouped into non-classical cadherins. This diversity of cadherins...
Microtubules in Signaling01:22

Microtubules in Signaling

The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
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...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
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...