Missing protein cause of scaly skin

Missing protein cause of scaly skin.

(12.08.2010) Researchers at the Universities of Cologne, Münster, Berlin, Heidelberg and Kiel have come a good step further in the search for the causes of scaly or calloused skin. They have the relatively rare hereditary skin disorder „Peeling Skin Syndrome“ examined and their results now under the title title „Loss of corneodesmosin leads to severe skin barrier defect, pruritus and atopy: unraveling the peeling skin disease "published in the American Journal of Human Genetics.

The disease leads to severe redness and massive itching, sometimes the skin peels off unevenly. The cause, according to the experts, is the missing protein corneodesmosin, which binds dying and dead skin cells of the epidermis as a binding molecule and builds up molecular junctions of the horny layer (corneodesmosomes). The complete failure of the protein is caused by a mutation of the corresponding gene and can also facilitate the penetration of pathogens through the skin, so that more often occur in those affected allergic reactions. On the basis of the new findings, new treatment options could now be developed, the hope of the experts, as it is now clear what role skin barrier disorders in various allergies can play. Drugs and therapies that can help restore the skin barrier to a healthy epidermis are currently under investigation at various universities.

The results were presented to researchers using genome-wide linkage analysis, which identified a genetic mutation as the cause of complete failure of the protein corneodesmosin. In subsequent experiments on artificial skin models, the experts further clarified that without corneodesmosin significant barrier disorders of the epidermis and the above-mentioned allergic reactions occur. (Fp)