22 October 2012
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'.
SOURCES & REFERENCES
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EurekAlert! (press release)
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18 October 2012
|
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BBC News
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15 October 2012
|
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Nature Genetics
|
14 October 2012
|
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University of Dundee (press release)
|
19 October 2012
|
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