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Related Concept Videos

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Desmosomes

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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...
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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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Different physical properties of lipids and proteins allow them to localize and form distinct islands or domains in the membrane. Some membrane domains are formed due to protein-protein interactions, whereas others are formed due to the presence of specific lipids such as sphingolipids and sterols—for example, large proteins, such as bacteriorhodopsin, aggregate and create distinct domains.
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Related Experiment Video

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Messages from Mutant Desmosomes.

Thomas M Magin1, Mechthild Hatzfeld2

  • 1Division of Cell and Developmental Biology, Institute of Biology, Leipzig University, Leipzig, Germany.

The Journal of Investigative Dermatology
|November 20, 2021
PubMed
Summary
This summary is machine-generated.

Investigating desmoglein (DSG) 1 mutations reveals how altered protein trafficking affects desmosome assembly. This highlights the complexity of genotype-phenotype correlations in genetic disorders.

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Area of Science:

  • Cell Biology
  • Dermatology
  • Genetics

Background:

  • Single gene disorders offer insights into molecular pathomechanisms relevant to complex diseases.
  • Phenotypic variability in patients with identical mutations underscores the role of disease modifiers.

Purpose of the Study:

  • To analyze the impact of two desmoglein (DSG) 1 transmembrane domain (TMD) mutations on desmosome assembly.
  • To elucidate the molecular mechanisms underlying desmosome dysfunction caused by DSG1 mutations.

Main Methods:

  • Analysis of mutations in the DSG1 transmembrane domain (TMD).
  • Assessment of protein trafficking, lipid raft targeting, expression levels, and turnover.
  • Evaluation of desmosome assembly, size, and abundance.

Main Results:

  • Both DSG1 TMD mutants failed to assemble into desmosomes due to impaired membrane trafficking and lipid raft targeting.
  • One mutant acted as a dominant negative with normal expression, while the second exhibited reduced stability and desmosome abundance.
  • Differential effects of mutations on protein stability and desmosome formation were observed.

Conclusions:

  • Understanding the DSG1 TMD is crucial for comprehending desmosome biology and associated skin disorders.
  • Cell biological approaches are essential for a comprehensive understanding of desmoglein function and mutation effects.
  • This study emphasizes the importance of considering protein trafficking and stability in genotype-phenotype correlations.