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Breakthrough In The Science Of Itchiness

Itchy skin is something we have all experienced; but surprisingly it is something of a medical mystery.

However a breakthrough study, funded by UK charity Action Medical Research, has found new genetic mutations that can cause the skin to itch.

Published yesterday in the American Journal of Human Genetics, this research is the first ever discovery of a gene abnormality that directly causes itchy skin.

Itchy skin is one of the most common and least understood symptoms in dermatology. Until now little had been known about itch mediators, receptors and pathways in the skin and, as a result, treatments for relieving itchiness have been limited.

An itchy skin disorder often seen by dermatologists is primary localised cutaneous amyloidosis (PLCA). There are several thousand people with this condition in the UK and hundreds of thousands of sufferers around the world.

Initial work by the King's College London based team, which also involved investigative dermatologists from Brazil, South Africa and Japan, has looked at the inherited form of the disease known as familial primary cutaneous amyloidosis.

The research has shown that mutations in the oncostatin M receptor-beta gene (OSMR) are the cause of this form of the skin disorder.

The team has discovered that skin cells with a mutant copy of the OSMR gene respond differently to certain stimulating molecules known as cytokines.

When stimulated with the cytokines oncostatin M or interleukin-31, the mutant skin cells fail to activate a number of anti-inflammatory genes and the result is itchy skin.

Lead researcher, Professor John McGrath of King's College London said, "This is a very exciting discovery.

"We have shown that inherited abnormalities in a particular part of a cell signalling receptor directly lead to a specific form of itchy skin."

Professor McGrath, who is also President of the European Society for Dermatological Research added, "This work provides new insight into what can cause itchy skin.

"We now plan to look for abnormalities of this signalling pathway in other itchy skin disorders and, most importantly, to examine how we can develop new treatments for that most common of all skin symptoms, itch."

Dr Yolande Harley of Action Medical Research said, "This is very interesting work that sheds light on a completely new area of research. It is the first discovery of a gene abnormality that directly causes itchy skin.

"The charity has worked with Professor McGrath for a number of years and we are very much looking forward to the next stage of his research which is looking to link these findings to more common forms of skin itching such as lichen simplex or lichen planus.

"Into the future this could provide a basis for developing new treatments to help control the symptoms of itch."

Notes:

The Research This initial finding is the first stage of a £118,394 project funded by the charity Action Medical Research.

Severe itch is a major disability without a current cure and only limited treatment options.

Primary cutaneous amyloidosis affects many thousands of people throughout the world, usually starting as itchy, flaky skin on the lower legs during childhood, but typically goes on to affect the whole skin and to be a life-long problem.

The condition usually presents with an unremitting itch and there may be visible changes to skin pigmentation and thickening which can be exacerbated by chronic scratching.

Currently, there is no cure and topical steroids and oral antihistamines only provide limited relief.

Action Medical Research Action Medical Research is a national charity, which is dedicated to building a healthier future for everyone. The Charity is funding research into many serious diseases and conditions, including premature birth, cerebral palsy, epilepsy, osteoporosis, sickle cell disease, Parkinson's disease and stroke.

Action Medical Research has been making breakthroughs for over 50 years, and its life-saving work benefits babies, children and adults. The Charity's successes include helping develop the UK polio vaccine, ultrasound scanning in pregnancy, the hip replacement operation, and discovering the link between taking folic acid and preventing spina bifida.

Action Medical Research





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