Scientists Have Identified Genes Involved in Hereditary Angioedema Acute Attacks

Researchers have carried out a study into the genetic mechanisms involved in hereditary angioedema acute attacks. They found that two genes, called uPAR and ADM, had a particularly strong influence. The full article can be found here, at Angioedema News.

Angioedema is the term used for swelling under the skin. Some people experience reoccurring angioedema that, in a small minority of cases, can become very serious. The swelling commonly affects the hands, feet, mouth, genitals, and eye area, and may be accompanied by hives. People who experience more serious angioedema might also feel dizzy, have stomach pain, and issues breathing. Angioedema can be caused by several factors, including reactions to medicines or other allergies, genetic factors, or for unknown reasons. The study discussed here focuses on genetic, or hereditary, angioedema.

The research, which is published in the Journal of Allergy and Clinical Immunology, identified two important genes that are involved in acute angioedema attacks. The researchers used blood samples to compare the genetic profiles of people with angioedema while they were having acute attacks, and while they were in remission, which was defined as free from attacks for one month or more. A group of healthy individuals were also genetically profiled for comparison.

The results of these tests showed that twenty-three genes were significantly more active while patients were having an acute attack. Using computer analysis of the data, they found that some genes were involved in the immune system. This suggests that blood immune cells play a role in patients’ acute attacks. The researchers also found that two specific genes showed increased activity during acute attacks. These were uPAR and ADM, both of which play a role in inflammation, blood vessel dilation, which affects blood flow, and bradykinin-forming processes, which is known to mediate acute angioedema attacks.
These findings were confirmed using another group of twenty patients with similar symptoms. Furthermore, when uPAR was inhibited in laboratory experiments, bradykinin levels also decreased.

Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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