Gene clues to help tackle skin disease

Dundee University experts said P34 played a key role in causing the disease punctate PPK, which gives sufferers dots of hard, thickened skin which can cause pain and discomfort.

Irwin McLean, professor of human genetics in the Centre for Dermatology and Genetic Medicine at the university, said: "We have not only found this gene but we have been able to figure out how it works, which is very important.

"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. It is estimated to affect around one in every 15,000 people in the UK.

The find was made possible by the 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 Mr McLean.

The research is published in the journal Nature Genetics.

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Gene clues to help tackle skin disease

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