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The epidermal barrier that limits the egress of water and the ingress of potential antigens and toxic agents is a complex, carefully arranged matrix of many proteins and lipids. Genetic disorders can be exquisite probes of the role of individual molecules that are important to or even essential for barrier function. In Netherton syndrome, a marked decrease in the LEKTI protease inhibitor is caused by the deficiency of a single gene, Spink5, which affects photolytic enzymes directly and epidermal lipids indirectly.
LEKTI deficiency leads to increased proteolytic activity of kallikreins 5, 7, and 14 (kallikreins are enzymes that cleave peptide bonds in proteins); an associated degradation of desmosomal proteins, including desmoglein 1, is also…