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EczemaGround-breaking research on the genetic basis of eczema has been published by irish Consultant Dermatologist Dr Alan Irvine. Read the Irish Times article at http://www.ireland.com/ 20 March 2006: Gene discovery offers hope for new eczema treatments SUMMARY: Scientists working on an inherited skin disorder have identified the mutated gene involved. FINDINGS: The study, published in the journal Nature Genetics, shows that people affected by the condition ichthyosis vulgaris have a faulty version of a crucial skin protein. The researchers, based in Dundee, Scotland, hope that their findings will lead to new treatments for eczema and some associated forms of asthma. CONTEXT: The team looked at DNA samples from families affected by ichthyosis vulgaris, a common condition that causes dry, scaly skin. Affected people have a 50 per cent chance of passing it on to each of their children, although the condition usually improves in adulthood. The scientists focussed on a gene that makes a protein called filaggrin, which binds to keratin fibres in the outer layer of the skin. In healthy skin, this forms a tough, protective barrier that keeps infections out, whilst keeping water in. EVIDENCE: The scientists found that many affected people have two mutated versions of the filaggrin gene, leading to dry and flaky skin. Some people with just one gene mutation also show mild symptoms of the disorder, say the team. The study also highlights links between ichthyosis vulgaris, eczema and asthma - about two thirds of a group of Irish children in the study had a filaggrin gene mutation and eczema, while a group of Scottish children showed a 'very strong' association between the mutated gene, asthma and eczema. COMMENT AND ANALYSIS: This study pinpoints the genetic basis of a common inherited skin disorder, a discovery that could shed light on the processes underlying eczema. Study leader Irwin McLean said the findings will allow scientists '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'. He likened eczema to a burning building, saying that up until now, treatments had been the equivalent of 'throwing buckets of water on the roof'. But now, he said, 'we know exactly where the fire is underneath and we can put the hoses in there'. Gene hope for eczema sufferers The Times 20 March 2006 http://www.timesonline.co.uk/article/0,,2-2093891,00.html New eczema treatments on horizon BBC News Online 20 March 2006 http://news.bbc.co.uk/1/hi/scotland/4817512.stm Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris Nature Genetics 1 March 2006 http://www.nature.com/ng/journal/v38/n3/abs/ng1743.html |
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