CHILD HEALTH
Irish team in eczema breakthrough
November 5, 2013
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International scientists headed up by a team from Trinity College Dublin (TCD) have identified a new genetic mutation linked to the development of the most common type of eczema.
Eczema is a group of skin complaints that can affect all age groups and can occur anywhere on the body.
The most common type is atopic eczema, sometimes referred to as atopic dermatitis (AD). This is a chronic and often painful inflammation of the skin. It results in an itchy, scaly, weepy red rash and is very widespread in the Irish population, particularly among children. In fact, around 20% of Irish children develop the condition, with two in three developing it before the age of six months.
Scientists working on an international research project led by Trinity College Dublin and the University of Dundee in Scotland discovered that a mutation in the gene Matt/Tmem79 led to the spontaneous development of dermatitis in mice.
This gene is involved in the production of a protein known as ‘mattrin', which has a key role in maintaining the skin's function as a barrier. However production of this protein is defective in those with the mutant gene and this leads to skin problems.
After discovering this link between the gene mutation and AD in mice, the scientists decided to look for a similar pattern in humans. This involved screening large groups of patients with AD and comparing them to people without the condition. From this, they discovered that the human equivalent gene MATT/MEM79 was similarly linked.
"We have identified a new gene mutation that leads to AD in mice, and have taken that work further to demonstrate that a variant of the human gene is associated with AD in patients," explained project leader, Prof Padraic Fallon, of TCD.
He said that these findings show how genetic patterns in animals can provide a starting point for investigating diseases in humans.
"This strategy enables us to identify new genes that are relevant in human disease and then examine the function of these genes during inflammation. This approach will ultimately help us to understand the factors leading to inflammatory diseases and assist in the development of new therapeutic strategies," he pointed out.
The study shows that a disruption of the barrier function of the skin is a ‘key driving force in the development of eczema', explained joint project leader, Prof Irwin McLean, of the University of Dundee.
"Without an intact skin barrier, foreign substances can enter the body and trigger inflammation and allergy," he said.
Details of these findings are published in The Journal of Allergy and Clinical Immunology.
For more information on this skin condition, see our Eczema Clinic here