News archive 2008

A new gene for itchy skin

10 Jan 2008, PR 08/08

A breakthrough study by a King’s College London based team, involving investigative dermatologists from Brazil, South Africa and Japan, has highlighted a new gene abnormality that directly causes itchy skin.



Published today 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. 

Exciting Discovery

Lead researcher, John McGrath, Professor of Molecular Dermatology at King’s College London and Honorary Consultant Dermatologist at Guy’s and St Thomas’ NHS Foundation Trust 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.’

Itchy skin is something most people have experienced; but it is something of a medical mystery.  However the study, funded by UK charity Action Medical Research, has found new genetic mutations that can cause the skin to itch and have looked at the inherited form of the disease known as familial primary localised cutaneous amyloidosis. There are several thousand people with this condition in the UK and hundreds of thousands of sufferers around the world.

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.

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



Notes to editors

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.

Professor John McGrath
John McGrath is Professor of Molecular Dermatology at King’s College London and Honorary Consultant Dermatologist at Guy’s and St Thomas’ NHS Foundation Trust. Over the last decade, his research group has made major contributions to discovering the molecular basis of inherited skin diseases and in establishing how the research discoveries can be translated into clinical benefits for patients.

King's College London
King's College London is one of the top 25 universities in the world (Times Higher 2007) and the fourth oldest in England. A research-led university based in the heart of London, King's has 19,300 students from more than 130 countries, and 5,000 employees. King's has an outstanding reputation for providing world-class teaching and cutting-edge research. The College is in the top group of UK universities for research earnings and has an annual income of approximately £400 million. An investment of £500 million has been made in the redevelopment of its estate.

King's has a particularly distinguished reputation in the humanities, law, social sciences, the health sciences, natural sciences and engineering, and has played a major role in many of the advances that have shaped modern life, such as the discovery of the structure of DNA. It is the largest centre for the education of healthcare professionals in Europe and is home to five Medical Research Council Centres – more than any other university.



Further information
Kate Moore
Email: katherine.2.moore@kcl.ac.uk
Tel: 020 7848 4334

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