title: A novel in situ method for the detection of deficient transglutaminase activity in the skin.
abstract: Autosomal recessive congenital ichthyoses are disorders of epidermal cornification, but are clinically and etiologically heterogeneous. Some cases, known as lamellar ichthyosis, are caused by mutations in the TGM1 gene encoding transglutaminase 1, which result in markedly diminished or lost enzyme activity and/or protein. In some cases, this enzyme is present but there is little detectable activity, and in other clinically similar cases, transglutaminase 1 levels appear to be normal. Since conventional enzyme assays and mutational analyses are tedious, we developed a novel assay for the rapid screening of transglutaminase 1 activity using covalent incorporation of biotinylated substrate peptides into skin cryostat sections. Coupled with immunohistochemical assays using transglutaminase 1 antibodies, our method allows rapid identification of those cases caused by alterations in this enzyme.
authors.affiliation: Department of Dermatology, University of Münster, Germany. raghuna@uni-muenster.de
authors.forename: M
authors.initials: M
authors.lastname: Raghunath
authors.forename: H C
authors.initials: HC
authors.lastname: Hennies
authors.forename: F
authors.initials: F
authors.lastname: Velten
authors.forename: V
authors.initials: V
authors.lastname: Wiebe
authors.forename: P M
authors.initials: PM
authors.lastname: Steinert
authors.forename: A
authors.initials: A
authors.lastname: Reis
authors.forename: H
authors.initials: H
authors.lastname: Traupe
mesh_terms: D002874:Chromosome Mapping; D004796:Clinical Enzyme Tests; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D009154:Mutation; D012867:Skin / Q000201:enzymology* / Q000473:pathology; D011503:Transglutaminases / Q000172:deficiency* / Q000235:genetics
chemical_list: D011503:Transglutaminases; C105804:transglutaminase 1