Mutation is the cause of vibrational urticaria

Polit.<url> based on the materials of Science: Rare ‘allergy’ to vibrations tied to faulty gene 

A group of scientists has identified a genetic mutation that causes a rare disorder – vibrational urticaria. In this case, the skin of patients begins to turn red in response to mechanical vibrations, for example, when working with a drill, lawn mower, in some cases, even a simple rubbing with a towel causes a skin reaction. Sometimes a headache and a metallic taste in the mouth are added to urticaria. Doctors know very few cases of vibrational urticaria, but they were able to note that it is inherited.

In a new study, the results of which were published by The New England Journal of Medicine (Boyden et al., Vibratory Urticaria Associated with a Missense Variant in ADGRE2), data on several families whose representatives have vibratory urticaria were studied. The authors were able to determine that 22 patients have a certain mutation in the ADGRE2 gene, which was not found in the other 14 relatives who did not suffer from vibrational urticaria.

This gene encodes a protein that serves as a receptor on the surface of mast cells – connective tissue cells that play a role in the body's immune responses. In particular, they serve as a reserve of histamine, which is released into the body during an allergic reaction. Urticaria is one of the manifestations of the action of histamine. As the researchers noted, simply shaking the mast cell culture in a Petri dish leads to the breakdown of the receptor responsible for the release of histamine into two subunits. In people with a mutation in the ADGRE2 gene, the probability of failure of this receptor is much higher. Therefore, they have typical manifestations of an allergic reaction in response to mechanical action.

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05.02.2015