Scientists discover 'key gene' in development of punctate PPK

15 October 2012

Scientists have taken a big step forward in understanding the causes of a skin disease that affects thousands of people in the UK.

Punctate PPK is a condition that causes dots of hard, thickened skin to develop around the body, which are often painful and uncomfortable.

However, a research team led by Professor Irwin McLean, from the University of Dundee, have identified how the P34 gene plays a key role in the development of the disease.

Mr McLean explained: "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."

The scientists are hopeful that their research, which has been detailed in the journal Nature Genetics, can lead to easier diagnosis of punctate PPK and create new therapies for better treating the condition.

Posted by Philip Briggs

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