15 October 2012

Rare skin disease gene discovered

(Image shows effects of Punctuate PPK)

A new gene and the way it works has been identified as a factor in a skin disease which affects thousands of people in the UK.

An international research team led by Professor Irwin McLean at the University of Dundee found that the `p34 gene’ played a key role in causing the disease punctate PPK, which gives sufferers dots of hard, thickened skin which can cause pain and discomfort.

The results of the research are published in the journal Nature Genetics.

"We have not only found this gene but we have been able to figure out how it works, which is very important," said Professor McLean, who is Professor of Human Genetics in the Centre for Dermatology and Genetic Medicine at Dundee. "When the gene is disrupted or knocked out, the cells in the skin grow too fast and this results in these hard, thick, painful lesions which can be quite debilitating. When the gene is working properly then the skin forms normally.

"Knowing about this gene and what it does makes it easier for us to diagnose this form of skin disease and look towards developing new therapies. The pathway where this gene functions is a possible drug target although it will need more work to identify how we can take advantage of that."

Punctate PPK is one of a whole family of PPK skin diseases, each of which are relatively rare. Punctate PPK is estimated to affect around 1 in every 15,000 people in the UK.

The gene discovery was made possible by use of next generation sequencing technology, which allows researchers to screen large amounts of genome data in a short space of time.

"This is a notable step forward in diagnosing skin diseases and the genetic causes behind them as this is research that we simply could not have done just a few years ago, We are now able to spot faulty genes and track their behaviour far more effectively," said Professor McLean.

"The technology is making a huge difference and it will, in time, help to deliver significant results with benefits for patients with diseases like this one."

The research team involved contributors at the Farhat Hached University Hospital in Tunisia; the University of Cambridge; NHS in Scotland; Our Lady’s Children’s Hospital, Dublin; Trinity College Dublin; Hokkaido University, Japan; Nagoya University Graduate School of Medicine, Japan; Otsu Municipal Hospital, Japan; Hiratsuka Municipal Hospital, Japan; the Institute of Medical Biology, A*STAR, Singapore; St. Thomas’ Hospital, London; King’s College London; and the National University of Singapore.

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