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Gene defect find in asthma study

Scientists in Dundee carrying out research into asthma believe they have made a breakthrough which could alter the treatment of the condition.

The University of Dundee team announced last year that they had identified the gene producing the protein filaggrin which causes asthma and eczema.

Through continuing research, they have now discovered that defects in the same gene could affect treatment.

This, they said, could lead to a big reduction in medication requirements.

The protein filaggrin is normally found in large quantities in the outermost layers of the skin - essentially keeping water in and foreign organisms out.

The latest discovery of defects in the gene has led the scientists, Dr Somnath Mukhopadhyay, Dr Colin Palmer and Professor Irwin McLean, to identify how it can determine the amount of treatment that a child or young adult with asthma needs on a day-to-day basis.

In a new paper published in The Journal of Allergy and Clinical Immunology, the team show the defects in the gene can make asthma patients three to six times more likely to have to reach out for their inhaler every day.

These patients are more likely to need extra medicines on top of inhaled steroids to control their asthma.

'Reduce medication'

Dr Mukhopadhyay said: ""Our findings show that these gene defects that affect the skin barrier which filaggrin provides has a significant effect on day-to-day asthma morbidity and medication we use.

""If these genetic skin barrier defects directly exacerbate asthma, young asthma sufferers who show these barrier defects may respond better to allergen withdrawal strategies.

""This would lead to a significant long-term reduction in asthma medication requirements.""

The research was carried out on child asthma sufferers in Tayside with support from GPs in Dundee, Perth and Kinross, Angus and Fife.

Take hair,


2 Replies

(I've tinyurl-ified your weblink, Deek. Hope you don't mind!)


Interesting research. Couldn’t access changed tiny whatever link but typed in ‘filaggrin’ and came up with what I think might have been your original web ref link Derek or similar? Extract appears below.

“Reduction or complete absence of this important protein leads to impaired formation of the skin barrier. As a result, the skin dries out too easily and in addition, the outer layers of the skin are poorly formed and constantly flake off. As well as keeping water in, the skin barrier normally keeps foreign substances out of the skin. In people with filaggrin mutations, foreign substances can easily enter the skin and be seen by the immune system. This explains the development of inflamed skin (eczema). In some people, priming of the immune system through the ""leaky"" skin appears to lead to asthma when foreign substances later enter the lungs.”

There seems to be much related asthma research concerning the 'epithelial-mesenchymal trophic unit.’ In plain English the inside ‘skin’ of lung and chronic inflammatory processes.

Doesn’t take rocket science sort of intellect to think there must be a link for those engaged in Th- 2 mediated research inflammation AND genetic traits?


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