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The desmosome: cell science lessons from human diseases.
Margaret D Kottke1, Emmanuella Delva, Andrew P Kowalczyk
1Department of Dermatology, Emory University School of Medicine, Emory University, Atlanta, GA 30322, USA.
Journal of Cell Science
|February 24, 2006
Summary
Human skin diseases involving cytoskeletal proteins highlight the critical role of desmosomes in tissue integrity. Studying these conditions advances our understanding of intermediate filament biology and desmosome function.
Area of Science:
- Cell Biology
- Dermatology
- Genetics
Background:
- Human skin diseases offer insights into cytoskeletal protein functions in tissue architecture.
- Keratin gene mutations in blistering disorders have significantly advanced intermediate filament biology.
- Desmosomes, prominent in epidermis and heart, are key attachment sites for intermediate filament networks.
Purpose of the Study:
- To explore the molecular mechanisms underlying epidermal autoimmune diseases, skin fragility syndromes, and heart-skin defect disorders.
- To elucidate the role of desmosome structure and function perturbations in human diseases.
- To understand the broader functions of desmosomal components beyond tissue integrity.
Main Methods:
- Analysis of human skin diseases.
- Study of epidermal blistering disorders.
- Investigation of keratin gene mutations.
Main Results:
- Significant increase in understanding intermediate filament biology.
- Progress in understanding the molecular basis of various skin and heart-related disorders.
- Identification of key roles for desmosomes in maintaining tissue integrity.
Conclusions:
- Human diseases linked to desmosome dysfunction reveal their critical role in tissue integrity.
- Desmosomal components play essential roles in signal transduction pathways.
- Desmosomes are crucial for epidermal organization and overall tissue homeostasis.