Desmoglein as a target in skin disease and beyond

Masayuki Amagai, John R. Stanley

Research output: Contribution to journalArticle

112 Citations (Scopus)

Abstract

Much of the original research on desmosomes and their biochemical components was through analysis of skin and mucous membranes. The identification of desmogleins 1 and 3, desmosomal adhesion glycoproteins, as targets in pemphigus, a fatal autoimmune blistering disease of the skin and mucous membranes, provided the first link between desmosomes, desmogleins, and human diseases. The clinical and histological similarities of staphylococcal scalded skin syndrome or bullous impetigo and pemphigus foliaceus led us to identify desmoglein 1 as the proteolytic target of staphylococcal exfoliative toxins. Genetic analysis of striate palmoplantar keratoderma and hypotrichosis identified their responsible genes as desmogleins 1 and 4, respectively. More recently, these fundamental findings in cutaneous biology were extended beyond the skin. Desmoglein 2, which is expressed earliest among the four isoforms of desmoglein in development and found in all desmosome-bearing epithelial cells, was found to be mutated in arrythmogenic right ventricular cardiomyopathy and has also been identified as a receptor for a subset of adenoviruses that cause respiratory and urinary tract infections. The story of desmoglein research illuminates how dermatological research, originally focused on one skin disease, pemphigus, has contributed to understanding the biology and pathophysiology of many seemingly unrelated tissues and diseases.

Original languageEnglish
Pages (from-to)776-784
Number of pages9
JournalJournal of Investigative Dermatology
Volume132
Issue number3 PART 2
DOIs
Publication statusPublished - 2012 Mar

Fingerprint

Desmogleins
Desmoglein 1
Skin Diseases
Desmosomes
Pemphigus
Skin
Desmoglein 2
Mucous Membrane
Staphylococcal Scalded Skin Syndrome
Exfoliatins
Desmoglein 3
Hypotrichosis
Palmoplantar Keratoderma
Research
Impetigo
Bearings (structural)
Cardiomyopathies
Adenoviridae
Urinary Tract Infections
Respiratory Tract Infections

ASJC Scopus subject areas

  • Dermatology
  • Biochemistry
  • Cell Biology
  • Molecular Biology

Cite this

Desmoglein as a target in skin disease and beyond. / Amagai, Masayuki; Stanley, John R.

In: Journal of Investigative Dermatology, Vol. 132, No. 3 PART 2, 03.2012, p. 776-784.

Research output: Contribution to journalArticle

Amagai, Masayuki ; Stanley, John R. / Desmoglein as a target in skin disease and beyond. In: Journal of Investigative Dermatology. 2012 ; Vol. 132, No. 3 PART 2. pp. 776-784.
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