15 December 2010
Hat-trick of awards for Dundee skin expert
Professor Irwin McLean, of the University of Dundee, has registered an impressive hat-trick of awards after being awarded the top dermatology society prizes for Europe, America and Asia.
Professor McLean, whose research group discovered that mutations on the filaggrin gene are the major cause of eczema and allergies, has just returned from Japan, where he gave the Tanioku Kihei Memorial Lecture at the annual conference of the Japanese Society for Investigative Dermatology. This is the highest award of the JSID.
It follows Professor McLean having given the Rene Touraine Lecture of the European Society for Dermatological Research (ESDR) in May 2008, and the William Montagna Lecture of the Society for Investigative Dermatology (SID) in Atlanta, USA in May 2010.
Professor McLean is based in the Division of Molecular Medicine at Dundee, where his research is concentrated in the area of inherited and inflammatory skin disorders.
'To collect the major awards from each of the societies in Europe, America and Asia is an achievement I am immensely proud of,' said Professor McLean.
'I am enormously grateful to past and present members of my research group, our many collaborators and many patients and families both locally and worldwide, without whom none of this would have been possible.'
Prof McLean is a human geneticist and skin biologist based at Dundee. He is the leading expert in the biology and genetics of the filaggrin gene and discovered its importance in human skin disease and allergy.
Normally people have two functional copies of the filaggrin gene (one copy inherited from each parent).
The McLean laboratory previously showed that about 10% of the population carry genetic mutations that completely 'knock out' the function of one of their filaggrin genes. These people have skin that is drier than normal and may have mild scaling or flaking of the skin (mild ichthyosis vulgaris). About 1 in 90 of the UK population carry two filaggrin mutations and their skin completely lacks this protein. They have severely dry and flaky skin (severe ichthyosis vulgaris).
The McLean group went on to show that these same mutations are a major genetic predisposing factor for eczema (also known as atopic dermatitis) and other related allergic conditions, importantly including a form of asthma secondary to eczema.
The McLean laboratory subsequently showed that white European populations carry at least 5 common filaggrin mutations as well as many other rare mutations, all of which 'knock out' the production of filaggrin protein in the skin and are important in genetic predisposition to eczema and related allergic diseases.
Working with colleagues in Ireland, Professor McLean and his team have also shown that mice carry a genetic defect which leads to allergic inflammation, comparable to that seen in human eczema and related allergic diseases.
The work further confirmed the role of the filaggrin gene in building up the barrier layers of the skin, demonstrating how mutations in this gene lead to conditions such as eczema.
Filaggrin is an abundant protein in the outermost layers of the skin and is produced by the filaggrin gene. Filaggrin’s function is to help produce the impermeable skin barrier layers present at the skin’s outermost surface and to keep these important skin layers hydrated.
The skin's inherent barrier function is akin to plastic or cling film - it acts to prevent water loss from the skin and importantly, to protect the body from foreign materials in the environment, such as allergens.
Lack of an intact skin barrier leads to allergens entering the body where they produce a range of allergic responses that include eczema, asthma, hay fever and other allergies.
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