Scientists working on an inherited skin disorder have identified the mutated gene involved, a discovery which they say will help shed light on eczema, and some cases of asthma. 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 mark 'the dawn of a new era in the understanding and treatment of eczema'.
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.
The scientists found that many affected people have two mutated versions of the filaggrin gene, which causes dry and flaky skin. Some people with just one gene mutation also show mild symptoms of the disorder, say the team. The study also highlight 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.
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 also said that although the filaggrin gene was identified over 20 years ago, it had proved very difficult to analyse. 'It was a really tough project, but because we had experience in this type of gene, we managed to crack it where others had failed'. 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'.