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Desmosomes01:05

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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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Inherited desmosomal disorders.

Liat Samuelov1, Eli Sprecher

  • 1Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel, samuelovliat@hotmail.com.

Cell and Tissue Research
|December 10, 2014
PubMed
Summary
This summary is machine-generated.

Desmosomes are crucial cell junctions in skin and heart. Mutations in desmosome genes cause genodermatoses, leading to skin, hair, and heart issues, potentially guiding future therapies.

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Area of Science:

  • Cell biology
  • Dermatology
  • Genetics

Background:

  • Desmosomes are vital intercellular junctions in tissues like skin and heart.
  • They mediate cell-cell adhesion, signaling, and differentiation.
  • Desmosomes link the cell surface to the keratin cytoskeleton via specific protein complexes.

Purpose of the Study:

  • To review the role of desmosomes in cellular functions.
  • To discuss desmosomal genodermatoses, their genetic basis, and clinical manifestations.
  • To highlight the importance of classifying these disorders for diagnosis and therapy.

Main Methods:

  • Literature review of desmosome structure and function.
  • Analysis of genetic mutations causing desmosomal genodermatoses.
  • Compilation of clinical presentations and classification of these diseases.

Main Results:

  • Desmosomal genodermatoses result from mutations in genes encoding desmosome components.
  • These disorders manifest with varied combinations of skin, hair, and cardiac abnormalities.
  • Understanding the common pathogenesis aids diagnosis and therapeutic development.

Conclusions:

  • Desmosomal genodermatoses represent a distinct clinical group with shared pathogenesis.
  • Accurate classification is key for diagnosis and potentially developing targeted therapies.
  • Further research into desmosome biology may unlock novel treatment strategies for these diseases.