Genetic cause of Raynaud’s Syndrome found!

FAQ Print
Genetic cause of Raynaud's Syndrome found!

Genetic cause of Raynaud’s Syndrome found!

Raynaud’s syndrome, characterized by sudden pallor in the fingers and toes, is a perplexing vascular disorder. This condition is driven by spasms in the small blood vessels, disrupting skin circulation and potentially causing discomfort. While exposure to cold is a common trigger, emotional stress can also induce these vasospasms.

Remarkably, 2 to 5 percent of the population inherit this condition. Despite its relatively high prevalence, the genetic underpinnings of Raynaud’s syndrome have remained largely unexplored.

A Breakthrough in Genetic Research

To shed light on this enigma, Dr. Sylvia Hartmann and her team at the Berlin Charité conducted a genome-wide association study. They analyzed data from 5147 individuals with Raynaud’s syndrome and 439,294 healthy control subjects from the UK Biobank. This extensive analysis uncovered previously unknown genomic regions linked to the risk of Raynaud’s syndrome. These groundbreaking findings have been published in the prestigious scientific journal “Nature Communications.”

The Key Genetic Players

Notably, variations in two genes were strongly associated with an increased risk of this condition. The first is the α-2A adrenergic receptor for adrenaline, known as ADRA2A. This receptor is a classic stress receptor that mediates the constriction of small blood vessels.

Professor Dr. Maik Pietzner, Group Leader at the Berlin Institute of Health (BIH) in the Charité, explains, “This makes sense when it’s cold or dangerous because the body needs to supply the internal organs with blood. In Raynaud’s patients, this receptor seems to be particularly active, which could explain the vascular spasms, especially in combination with the second gene we’ve identified.” The second gene is the transcription factor IRX1, which may regulate the ability of blood vessels to dilate.

Unraveling the Mechanism

When the production of IRX1 is elevated, the constricted vessels struggle to relax promptly. This, in conjunction with the overactive adrenaline receptor, may result in prolonged periods of poor blood circulation, leading to the observed pallor in the fingers and toes.

A Ray of Hope: Therapeutic Avenues

In a quest for potential treatments, Dr. Hartmann’s team scoured the Open Target Database and identified 50 compounds with some affinity for ADRA2A. While there are already approved drugs that act antagonistically on the α2-Adrenoreceptor, such as the antidepressant Mirtazapin, these are not specific to this receptor and have, in some reported cases, worsened symptoms in Raynaud’s patients.

The possibility of systemic or topical treatment with Mirtazapin to alleviate vasospastic attacks in Raynaud’s patients remains a subject for clinical studies. In a prior investigation, the α2-adrenergic agonist Methyldopa showed promise in alleviating symptoms in Raynaud’s patients.


The genetic roots of Raynaud’s syndrome have been uncovered, offering a potential path to novel therapies. This discovery marks a significant leap forward in our understanding of the condition and brings hope for improved treatments for individuals living with Raynaud’s syndrome.

Original source: This information was Initially covered by and has been translated for our readers.

5 1 vote
Article Rating
Notify of
Inline Feedbacks
View all comments

You might also like

  • How to Safely and Effectively Eliminate Those Pesky Age-Related Warts

    How to Safely and Effectively Eliminate Those Pesky Age-Related Warts

  • The Human as a Virus Carrier to Animals

    The Human as a Virus Carrier to Animals

  • Want to Lose Weight with Jogging Avoid These 4 Things

    Want to Lose Weight with Jogging? Avoid These 4 Things

More results…

Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors

The expert search feature is especially useful for healthcare professionals, researchers, and scientists who require accurate and up-to-date information on pharmaceutical products. By narrowing down their searches using filters, they can easily access the relevant data they need, making informed decisions about treatment options or drug research endeavors.

Expert Search  →

Recent comments