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Newly Discovered Gene Defect Causes Skin to Tear Quickly

© American Journal of Human Genetics /<br/> Medical Center - University of Freiburg

Previously unknown cause now explained in patients with epidermolysis bullosa. Fundamentally important for skin stability.

If the skin blisters or even rips under minimal stress, the rare hereditary disease epidermolysis bullosa may be the cause. It is also called the butterfly disease. Now researchers from the Medical Center - University of Freiburg, together with an international team, have discovered another gene defect that can trigger this serious disease.

Scientists working with Prof. Dr. Cristina Has, head of the Molecular Dermatology Working Group in the Department of Dermatology (Medical Director: Prof. Dr. Leena Bruckner-Tuderman) of the Medical Center - University of Freiburg, examined the complete genotypes of 14 patients whose extreme skin sensitivity has a previously unknown genetic cause. Through comparison with the genetic data of healthy relatives, the researchers discovered a new genetic modification that leads to a defect in the protein KLH24. In the laboratory they showed that this protein stabilizes the framework of skin and connective tissue cells. "The newly discovered mechanism is fundamentally important for the mechanical stability of the skin, and could also play a role in other diseases," says Prof. Has, whose research group specializes in clearing up "genetically unresolved" cases. The study appeared on 23 November 2016 in the American Journal of Human Genetics.

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