Researchers from Queen Mary University of London, as part of a scientific team, have determined the genetic nature of Raynaud’s syndrome, which is characterized by numbness and freezing in the fingers. In this respect reports Daily mail.
Raynaud’s syndrome is a spasm of blood vessels in the hands or feet in response to cold or emotional stress. Due to spasm, blood flow to the tissue stops, so in Raynaud’s syndrome, the fingers become numb, pale (or acquire a blue tint), become cold and lose sensitivity.
Scientists analyzed data from 439,294 people from the UK Biobank. It is a repository for human biological samples used in research. The team identified 5,147 people with Raynaud syndrome and found two reasons that predisposed them to the condition.
One of these was hyperfunction of the alpha-2A adrenergic receptor for epinephrine, or ADRA2A. It is a stress receptor that causes small blood vessels to contract. In patients with Raynaud’s syndrome, this receptor is overactive, which explains the constant spasm of blood vessels.
The syndrome may also be caused by faulty function of the RX1 protein, which plays an important role in the early development of the embryo. A mutation in the gene of the same name that codes for the RX1 protein may prevent narrowed blood vessels from relaxing.
Researchers also found that people with a genetic predisposition to low blood sugar may be at increased risk of developing this syndrome.
Before artificial intelligence taught Predict rare diseases.