Scientists ID cause of rare skin condition

July 23, 2013

Scientists have identified mutations in the AQP5 gene, which encodes a water channel protein known as aquaporin 5, as the underlying cause of diffuse non-epidermolytic palmoplantar keratoderma (NEPPK).

Scientists have identified mutations in the AQP5 gene, which encodes a water channel protein known as aquaporin 5, as the underlying cause of diffuse non-epidermolytic palmoplantar keratoderma (NEPPK).

The discovery offers further insight into how the skin barrier functions and may help direct future investigations into other conditions, say the researchers from Queen Mary, University of London.

The research team analyzed DNA from a population of British and Swedish families in which the skin condition is much more prevalent. Among the general population, it is estimated that one in 40,000 may carry the genetic mutation, but in northern Sweden the rate is up to one in 200, according to a news release.

"The AQP5 gene mutation appears to result in a protein that has a wider channel than usual, forming a bigger pore in the cell membrane allowing more water to permeate it," says study co-author Diana Blaydon, M.D., Blizard Institute at Barts and the London School of Medicine and Dentistry, Queen Mary.

The researchers noted that all individuals who inherit an AQP5 mutation will develop NEPPK; however further research is required to understand how.

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