Distinguishing Ichthyoses by Protein ProfilingReportar como inadecuado




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To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics. Samples were analyzed after collection on tape circles from six anatomic sites forearm, palm, lower leg, forehead, abdomen, upper back, demonstrating site-specific differences in profiles. Additional samples were collected from the forearms of subjects with ichthyosis vulgaris filaggrin FLG deficiency, recessive X-linked ichthyosis steroid sulfatase STS deficiency and autosomal recessive congenital ichthyosis type lamellar ichthyosis transglutaminase 1 TGM1 deficiency. The ichthyosis protein expression patterns were readily distinguishable from each other and from phenotypically normal epidermis. In general, the degree of departure from normal was lower from ichthyosis vulgaris than from lamellar ichthyosis, parallel to the severity of the phenotype. Analysis of samples from families with ichthyosis vulgaris and concomitant modifying gene mutations STS deficiency, GJB2 deficiency permitted correlation of alterations in protein profile with more complex genetic constellations.



Autor: Robert H. Rice, Katie M. Bradshaw, Blythe P. Durbin-Johnson, David M. Rocke, Richard A. Eigenheer, Brett S. Phinney, Matthias Sch

Fuente: http://plos.srce.hr/



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