Another Eczema Gene Identified

Human variations in a gene that causes matted fur in mutant mice are tied to the skin malady.

By | November 6, 2013

WIKIMEDIA, AFROBRAZILIANEczema is a common skin problem that involves chronic inflammation and itching. Genetic studies of the disorder have homed in on mice with mutations in the filaggrin gene, which lead to defects in the skin's outer surface. Researchers have now identified a second culprit, a gene called Matt that encodes the transmembrane protein mattrin and whose variants are linked with eczema—not just in mice, but in humans, too.

Comparing thousands of people with eczema to those without, the researchers found that a single nucleotide polymorphism in the human MATT gene was related to a small increased risk for the condition. It's not entirely clear yet what mattrin does, but it appears to also have a role in shoring up the skin against external stresses. “Sequence homology suggests a possible role for mattrin in the biology of lipids or lipid-like molecules,” the authors wrote in their study, published September 30 in The Journal of Allergy and Clinical Immunology.

It would make sense for eczema-related genes to have some role in skin defenses. “Without an intact skin barrier, foreign substances can enter the body and trigger inflammation and allergy,” study coauthor Irwin McLean, the scientific director of the Centre for Dermatology and Genetic Medicine at the University of Dundee, told the Irish Independent. The team wrote that future studies will require figuring out mattrin's substrates and its downstream signaling pathways.

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