Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation.

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  • Additional Information
    • Source:
      Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Print ISSN: 0007-0963 (Print) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE
    • Publication Information:
      Publication: 2023- : Oxford : Oxford University Press
      Original Publication: Oxford [etc.] Published for the British Association of Dermatologists by Blackwell Scientific Publications [etc.]
    • Subject Terms:
      Cell Adhesion Molecules/*analysis ; Epidermolysis Bullosa, Junctional/*genetics ; Skin/*chemistry; Adolescent ; Adult ; Aged ; Antibodies, Monoclonal ; Cell Adhesion Molecules/genetics ; Cell Adhesion Molecules/immunology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Genes, Lethal ; Genes, Recessive ; Humans ; Immunohistochemistry ; Infant ; Microscopy, Fluorescence ; Middle Aged ; Mutation ; Skin/embryology ; Kalinin
    • Abstract:
      The anchoring filament protein laminin 5 is composed of three polypeptide chains (alpha 3, beta 3 and gamma 2) each encoded by separate genes (LAMA3, LAMB3 and LAMC2, respectively). Mutations in any of these three genes may give rise to the autosomal recessive blistering skin disease, junctional epidermolysis bullosa. At present, there is no easy way of predicting which of these three genes might harbour the pathogenetic laminin 5 mutations in a case of junctional epidermolysis bullosa. In this study, we assessed whether immunohistochemistry might be helpful in this regard. We performed immunohistochemical labelling of the dermal-epidermal junction using alpha 3, beta 3 and gamma 2 chain-specific antibodies in 11 patients with junctional epidermolysis bullosa, in whom the laminin 5 mutations had been previously delineated. Although, labelling for the laminin 5 chain bearing the mutations was attenuated or undetectable in all cases, a complete absence of labelling or a reduction in the staining intensity for the other two chains was also seen in all cases. The results showed that immunohistochemical labelling of the dermal-epidermal junction using alpha 3, beta 3 and gamma 2 chain-specific antibodies is not a specific indicator for which of the laminin 5 chain genes contains the pathogenetic mutations, and is therefore unreliable in screening for individual laminin 5 gene mutations in cases of junctional epidermolysis bullosa.
    • Grant Information:
      P01-AR38923 United States AR NIAMS NIH HHS
    • Accession Number:
      0 (Antibodies, Monoclonal)
      0 (Cell Adhesion Molecules)
    • Publication Date:
      Date Created: 19970601 Date Completed: 19970729 Latest Revision: 20231213
    • Publication Date:
      20240829
    • Accession Number:
      9217810