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Hair loss syndrome created in mice

Inactivating just one of more than two dozen similar genes can cause temporary but profound hair loss, known as alopecia, in mice, researchers from Johns Hopkins and the Pasteur Institute in France report in the June issue of Genes & Development.

Surprisingly, the impact of loss of this keratin 17 gene (K17) depended on an animal's genetic make-up: its loss caused no effect in one strain of mice and complete alopecia in another, the scientists report. Mice that were a mix of the strains showed severe or moderate hair loss, or even no hair loss at all, says Pierre Coulombe, Ph.D., professor of biological chemistry at the Johns Hopkins School of Medicine.

"It's well known that a single genetic change can cause different effects in different individuals," says Coulombe, also a faculty member in dermatology. "However, it's unusual to be able to unravel why this happens. If we can understand how mice respond differently to the lack of K17, maybe it will help us understand what's going on in humans with altered K17."

In people, a single genetic mutation in K17 causes two very rare, clinically distinct conditions, one involving the skin's oil-producing glands, and the other the fingernails. No one has been able to explain how two such different conditions can result from a single change in the K17 gene and protein.

There are roughly 50 or so keratin proteins that help build the hair, nails and glands found in the skin in people, says Coulombe. Of these, about 30 are involved in specific diseases, many of which are as variable as what's seen with K17. While they haven't examined samples from people, the scientists suggest their results may affect research into keratin diseases in humans.

"We've documented in mice a clear example, specific to one structure -- hair -- and one gene, in which genetic background has a profound impact on the severity of a condition," says Coulombe. "It raises the possibility that the genetics of a perso
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Contact: Joanna Downer
jdowner1@jhmi.edu
410-614-5105
Johns Hopkins Medical Institutions
14-Jun-2002


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