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Faulty gene leading to skin disorder spotted

22 October 2012
Appeared in BioNews 678

Scientists have identified a gene involved in an incurable skin disease. Using advanced screening techniques they discovered several mutations in this gene in people with punctuate palmoplantar keratoderma (PPK).

The disease affects about one in 15,000 people in the UK, and causes specks of tough, thickened skin to accumulate on the palms of the hands and soles of the feet. These can be uncomfortable or even painful, and persist for life. Until now, little was known about how the disease develops.

However, Professor Irwin McLean, from the University of Dundee, who led the international team involved in the research, said: 'We not only found this gene but we have been able to figure out how it works'.

In the study, published in the journal Nature Genetics, researchers tested DNA from 18 families with the disease using a technique called next generation sequencing, which allows large amounts of DNA to be screened quickly. Screening identified several mutations in the gene encoding the p34 protein, resulting in the production of a non-functional protein.

Using cell culture techniques, scientists also found that p34 plays an important role in regulating cell division. They believe that the altered functioning of p34 in people with punctuate PPK leads to uncontrolled cell proliferation and the thickened skin lesions typical of the condition.

'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', said Professor McLean. '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'.

The next generation sequencing techniques that were used in this discovery could be used to identify the mutations leading to other rare diseases as well. 'This is research that we simply could not have done just a few years ago', 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'.

A*Star scientists identify mutation that causes skin hyperproliferation
EurekAlert! (press release) |  18 October 2012
Dundee University uncover gene behind skin disease
BBC News |  15 October 2012
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
Nature Genetics |  14 October 2012
Rare Skin Disease Gene Uncovered
University of Dundee (press release) |  19 October 2012
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