In vitro and rapid in situ transglutaminase assays for congenital ichthyoses--a comparative study
Details
Serval ID
serval:BIB_D04C1A162D1D
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
In vitro and rapid in situ transglutaminase assays for congenital ichthyoses--a comparative study
Journal
Journal of Investigative Dermatology
ISSN
0022-202X (Print)
Publication state
Published
Issued date
03/1998
Volume
110
Number
3
Pages
268-71
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Mar
Research Support, Non-U.S. Gov't --- Old month value: Mar
Abstract
Autosomal recessive congenital ichthyoses are a heterogeneous group of disfiguring skin diseases. They are generally characterized by variable scaling and erythroderma, and patients are frequently collodion babies at birth. Autosomal recessive congenital ichthyoses are represented in 25 of our 50 families by a defective keratinocyte transglutaminase (TGK). Pathogenic classification is difficult to assess on clinical grounds for autosomal recessive congenital ichthyoses and impossible for collodion babies. Thus, we have established a rapid TGK assay in situ on frozen skin sections using incorporation of dansyl-cadaverin to assess transglutaminase (TG) activity in combination with immunohistochemistry for TGK protein. Results were compared with TG activity levels measured in cultured differentiating keratinocytes. Sixteen of 26 patients, including a collodion baby, had strongly diminished TG activity in the cell periphery of differentiating keratinocytes and membrane-bound TG activities in vitro, ranging from 2.2 to 281.3 pmol per h mg. Nine of 26 patients, including a collodion baby, showed strong TG activity in the cell periphery of differentiating keratinocytes in situ and membrane-bound TG activities in vitro ranged from 1519 to 10917 pmol per h mg. In one case, TG assay in situ was ambiguous; however, membranous TG activity in vitro was very low at 76.9 pmol/h x mg. Our results demonstrate an excellent correlation of TG assays in vitro and in situ. In addition, we present a novel test with prognostic value for the collodion baby phenotype. This assay allows rapid pathogenic classification of autosomal recessive congenital ichthyoses with only one caveat that in rare ambiguous cases it might be necessary for proper classification to assess membrane-bound TG activity in vitro.
Keywords
Animals
Cadaverine/analogs & derivatives/diagnostic use
Cell Differentiation/physiology
Cells, Cultured
Fluorescent Antibody Technique
Humans
Ichthyosis/*enzymology/pathology
Infant, Newborn
Keratinocytes/enzymology/pathology
Mice
Transglutaminases/*analysis
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 16:36
Last modification date
20/08/2019 15:50