Rare 'allergy' to vibration-related gene defect

22:29
Rare 'allergy' to vibration-related gene defect -

If you have the rare condition known as hives of vibration, you may be wary of handling trimmers and electric mixers. Rub or vibration against your skin, even dry with a towel can make you break out in hives, make your face blush, you give headaches or produce the sensation of metallic taste. The condition that runs in families, is so rare that researchers working on it have only tracked some cases over the years of research. But a genetic study on three of these unique families revealed a potential mechanism for the strange symptoms. Research published online today in The New England Journal of Medicine describes a mutation in a gene called ADGRE2 found in 22 individuals with the vibratory urticaria, but not in 14 parents are not affected. The gene codes for a receptor protein that was found on the surface of mast cells, immune cells in the skin that discharge inflammatory molecules such as histamine that increases blood flow to an area and can cause urticaria. The researchers observed that shaking the mast cells in a dish breaks apart of two subunits of the receptor protein, prompting the release of histamine. In people with the newly discovered mutation, the receiver is more likely to rupture, causing the protective immune response at the site of physical trauma to unleash.

Previous
Next Post »
0 Komentar