Scottish researchers have uncovered the root causes of a skin complaint which affects thousands of people in the UK.
Researchers from the University of Dundee demonstrated how disruption of “p34 gene” plays a part in causing skin disease punctate PPK.
Thier findingas have been published in the journal Nature Genetics.
Professor Maclean, who leads the research team within the Centre for Dermatology and Genetic Medicine at the University, said: “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.”
The disease is one of a number of palmoplantar keratoderma (PKK) diseases and this punctate variety is estimated to affect 1 in 15,000 of the UK population.
The Professor stated that: “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.”
Made possible by cutting edge gene sequencing technology, Professor McLean described the breakthrough as “a notable step forward in diagnosing skin diseases and the genetic causes behind them.”
He said: “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.”