Gene discovery provides new hope for eczema and asthma cure
A University of Dundee-led team of scientists have discovered the gene that causes dry, scaly skin and predisposes individuals to the condition atopic dermatitis, more commonly known as eczema.
The researchers discovered that the condition caused by the faulty gene, which affects millions of people worldwide, can also lead to asthma and has provided new hope for the development of treatments for these conditions.
The international team involved experts in Dundee, Dublin, Glasgow, Seattle and Copenhagen and was published in two consecutive editions of the prestigious journal, Nature Genetics.
More than 600 Tayside children with asthma participated in the study by donating samples of their DNA and answering questionnaires.
Currently, the only treatment for dry, scaly skin (ichthyosis vulgaris) and eczema is the use of emollients and ointments that stop the skin from drying out and anti-inflammatory drugs that treat inflammation.
The researchers discovered that mutations in a particular gene, called FLG, results in a deficiency of a skin protein called filaggrin which plays a role in building and maintaining the protective outer layer of the skin that keeps water in and foreign organisms out. In more serious forms of the condition both copies of the FLG gene are knocked out.
As a result, the skin dries out too easily and becomes flaky. Foreign substances passing in through the skin trigger the immune system into action, resulting in inflammation.
In some people, this is turn appears to lead to asthma when the foreign substances enter the lungs at later date.
Lead researcher Professor Irwin McLean from the Human Genetics Unit, Ninewells Medical School, said, "Finding this major gene for atopic dermatitis (eczema) and asthma allows us for the first time to understand what goes wrong in the skin of these patients and paves the way for the development of new treatments or preventative measures in the coming years."
"Analyzing this very difficult gene was one of the toughest things we have ever done. Several top genetics labs around the world gave up on it. With a mixture of luck, skill and an incredibly intense team effort over the last few months, we succeeded in unlocking the secrets of the gene and discovered a major cause of human disease."
The Dundee team is now working on developing methods to treat and even prevent these diseases. They already have evidence for the presence of different FLG mutations in different ethnic populations and it seems that reduction or absence of filaggrin in the skin is likely to be a major cause of dry skin and eczema worldwide.
Professor McLean said Dr Frances Smith in his lab was particularly active in solving the complex problems of analyzing this gene. Dr Somnath Mukhopadhyay in Child Health and Dr Colin Palmer, Biomedical Research Centre, both at Ninewells, were instrumental in the eczema/asthma discovery.
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