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 today (Thursday January 10th 2008) 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.”
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