It has only recently become known that it is a skin barrier defect rather than a problem with the immune system that underlies eczema and related conditions but the research in this area is advancing rapidly.
A gene has been identified by a team based at Dundee University which predisposes people to eczema and asthma by weakening the skin barrier and allowing access to allergens. These then trigger the immune system changes that, in turn, lead to disease.
The discovery, which has already been strongly supported by a number of other studies, will, for the first time, allow scientists to understand what goes wrong in the skin of eczema patients. Hopefully, it may also pave the way for the development of new treatments, and possibly even preventive measures.
The role of the recently-identified gene is to create filaggrin, a protein which is normally found in the outermost layers of the skin, and which is vital to ensure that the skin forms a barrier to keep fluid in and foreign organisms and allergens out.
Like all genes, the filaggrin gene comes as a pair, and the severity of the resulting disease depends upon whether a person has a single
defective copy or two.
About one in 10 of the population carries a single defective copy and, as a result, has dry and flaky skin and a 60% chance of developing eczema.
One person in every 120,000 has defects in both genes and an almost 100% likelihood of having eczema, asthma and also, it is suspected, hayfever and even peanut allergy.
Now, the same team responsible for the initial discovery of the genetic basis of eczema has shown that there can be up to 15 different faults within the filaggrin gene and that eczema sufferers of different ethnic backgrounds have different faults within this gene.
Five mutations are prevalent in patients from the UK and Ireland, where 9% of the population were shown to carry these particular defects. Two mutations were observed throughout all European peoples, and a further two mutations were found in Oriental populations, where 4% of people of Chinese descent are affected. Some other very rare mutations in the gene were found to be limited to single families.
Based on these results, it is predicted that the filaggrin gene will be found to be a major factor in skin disorders on a global scale.
The Dundee-based team looks to be on course to reveal a full picture of the causation of this disease, and the knowledge they are gaining should eventually enable genetic testing and bring hope of new and more effective treatments in the not too distant future.
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