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| Uncovering the Genetic Roots of Raynaud's Phenomenon: A Breakthrough in Understanding and Treatment |
Researchers at Queen Mary University of London's Precision Healthcare University Research Institute (PHURI) and the Berlin Institute of Health (BIH) have unlocked the genetic underpinnings of Raynaud's phenomenon, shedding light on the elusive causes of this condition. Published in Nature Communications under the title "ADRA2A and IRX1 are putative risk genes for Raynaud's phenomenon," these findings may usher in the first truly effective treatments for individuals suffering from Raynaud's.
Led by professors Claudia Langenberg and Maik Pietzner, working in collaboration across PHURI and BIH, this team conducted the most extensive genetic study to date on Raynaud's phenomenon. Their research harnessed electronic health records from the UK Biobank, encompassing genetic and health data from over half a million UK participants. In addition, electronic health records from Queen Mary's Genes & Health study were utilized.
Their research unveiled variations in two specific genes that render individuals more susceptible to Raynaud's phenomenon. One of these genes is ADRA2A, the alpha-2A-adrenergic receptor for adrenaline, a well-known stress receptor responsible for constricting small blood vessels. Professor Maik Pietzner, who serves as the group leader at BIH and is a professor of health data modeling at PHURI, explained, "In Raynaud's patients, this receptor seemed to be particularly active, which could explain the vasospasms, especially in combination with the second gene that we found." The second gene identified is IRX1, a transcription factor that might regulate the blood vessels' ability to dilate. An increase in its production could activate genes inhibiting normal vessel relaxation. This, combined with the overactive adrenaline receptor, may result in reduced blood supply to the extremities, causing the characteristic white fingers and toes.
These groundbreaking findings hold the potential to offer valuable recommendations for patients in managing the condition and its symptoms. Notably, the research indicates that individuals with a genetic predisposition to low blood sugar levels face an elevated risk of Raynaud's phenomenon. This suggests that such patients should consider avoiding prolonged episodes of low blood sugar to mitigate the condition's impact.
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