Breaking the skin barrier

a team of researchers, including an Indian doctor working in the uk, has identified a gene whose malfunctioning causes eczema and asthma.

Mutations in the gene cause dry, scaly skin and predispose individuals to eczema. Some of these individuals also develop a form of asthma. Currently, only symptomatic treatment of eczema is possible, using anti-inflammatory drugs or ointments to prevent the skin drying out. Now that the underlying gene defect is known, it will be possible to design more effective therapies to tackle the root cause of the problem.

The work by scientists at the University of Dundee, including Somnath Mukhopadhyay of the Dundee breathe study, with collaborators in Dublin, Glasgow, Seattle and Copenhagen has been published in two consecutive papers in the March and April editions of Nature Genetics (Vol 38, Nos 3, 4). The Dundee group is already working on developing methods to treat and even prevent these diseases.

The gene in question produces a protein called filaggrin which is normally found in large quantities in the outermost layers of the skin. This protein is essential for maintaining the skin barrier function keeping water in and foreign organisms out. Worldwide, about 60 million people are estimated to carry filaggrin mutations and more than one million are predicted to have the severe form of eczema as a consequence of these mutations alone.

The Dundee group already has evidence for the presence of different filaggrin mutations in different ethnic populations and it seems that the reduction or absence of the protein in the skin is likely to be a major cause of dry skin and eczema worldwide.

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