Science / Medicine : Mutation of Gene Linked to Group of Skin Diseases

A mutation in the gene that serves as the blueprint for the structural protein keratin is the cause of a group of human diseases called epidermolysis bullosa simplex (EBS), Illinois researchers reported last week in the journal Cell. EBS, which strikes one in every 50,000 people, is characterized by skin that blisters easily upon mild contact.

Keratin is an abundant protein in skin and other cells on body surfaces. Keratin molecules aggregate to form filaments that become interwoven to hold the cells in shape. Researchers had not previously linked keratin with EBS.

Molecular geneticist Elaine Fuchs and her colleagues at the University of Chicago made the discovery by inserting a defective keratin gene into a strain of healthy mice to determine what, if any, disorder it would cause. The resulting transgenic mice developed symptoms of EBS. The researchers were subsequently able to detect a defective keratin gene in two humans with EBS, strong proof that defective keratin causes the disorder.

The finding may not immediately lead to therapy for the disorder. The researchers found that production of even a small amount of defective keratin could produce the symptoms of EBS, so gene therapy would not work.