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Related Experiment Videos

Desmosomes: structure and function in normal and diseased epidermis.

J R McMillan1, H Shimizu

  • 1Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

The Journal of Dermatology
|July 31, 2001
PubMed
Summary

Desmosomes, crucial for skin adhesion, are linked to autoimmune and congenital diseases. Genetic defects in desmosome components cause various skin, hair, nail, and heart conditions, advancing disease understanding.

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Area of Science:

  • Cell biology
  • Dermatology
  • Genetics

Background:

  • Desmosomes are vital epidermal adhesion complexes.
  • They involve cell-specific transmembrane cadherins and plaque molecules.
  • Desmosome dysfunction is implicated in autoimmune and congenital diseases.

Purpose of the Study:

  • To review diseases associated with desmosome components.
  • To highlight the genetic basis of desmosome-related disorders.
  • To underscore the role of desmosomes in cell cohesion and disease.

Main Methods:

  • Literature review of desmosome-related diseases.
  • Analysis of genetic defects in desmosome components.
  • Correlation of molecular defects with clinical phenotypes.

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Main Results:

  • Desmosome components are implicated in pemphigus (autoimmune) and Hailey-Hailey, Darier, Striate Palmoplantar Keratoderma, and Naxos disease (congenital).
  • Specific gene defects identified include plakophilin I, desmoplakin, desmoglein 1, and plakoglobin.
  • These defects lead to conditions like skin fragility, ectodermal dysplasia, palmoplantar keratoderma, cardiomyopathy, and abnormal hair growth.

Conclusions:

  • Genetic defects in desmosome components cause significant human diseases.
  • Understanding these defects enhances knowledge of desmosome function and epithelial cohesion.
  • This research facilitates the discovery of novel cell cohesion-related disorders.