Raynaud’s Phenomenon

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Context: The genetic causes of Raynaud’s phenomenon have been probed by researchers at Queen Mary University of London’s Precision Healthcare Research Institute (PHURI) and Charité – Universitätsmedizin Berlin’s Berlin Institute of Health (BIH).

Findings of the research

The researchers discovered variations in two genes that predisposed participants to

Raynaud’s phenomenon:

Alpha-2A-adrenergic receptor for adrenaline, ADRA2A

• One was the alpha-2A-adrenergic receptor for adrenaline, ADRA2A, a classic stress receptor that causes the small blood vessels to contract.
• This makes sense when it’s cold or dangerous because the body has to supply the inside of the body with blood.

Transcription factor IRX1

• The second gene is the transcription factor IRX1, which may regulate the ability of blood vessels to dilate.
• If its production is increased, it may activate genes that prevent constricted vessels from relaxing as they would normally do.
• Together with the overactive adrenaline receptor, this may then lead to the vessels not supplying enough blood for a longer period, which leads to the observed white fingers and toes.

Raynaud’s phenomenon (RP)

• Raynaud’s phenomenon (RP) is a heritable blood circulation disorder.
• It’s a vasospastic disorder, which implies that small blood vessels near the skin’s surface spasm, limiting blood flow

Symptoms

• People with Raynaud’s syndrome frequently experience discomfort in their fingers and toes, as well as changes in skin colour, as a result of a lack of blood flow during attacks when they are cold or emotionally upset.
• In more extreme cases, it might result in severe pain or ulcers.

Prevalence

• Around 2-5 per cent of the population is affected by Raynaud’s.
• Raynaud’s is a painful, chronic condition that affects around one in ten people in the UK.

Issues with Raynaud’s phenomenon

• Despite it being a common condition, it’s under investigation and little is understood about the genetic cause of the condition.
• There are limited treatments available for RP.
• Doctors usually advise that the patient use ‘self-management’ strategies such as keeping warm and avoiding triggers of attacks.
• In severe cases medications can be prescribed, these are ‘repurposed drugs’, usually medicines to lower high blood pressure, which often cause severe side effects in patients.

Way ahead

• A better understanding of the underlying genetic mechanisms that cause RD is needed to develop safe and effective treatments.
• Research like this, which significantly advances our understanding of Raynaud’s and the role that genetics may play in causing it, is crucial.
• The next step is to confirm these important findings in more diverse population groups and validate the results through functional studies.
• If successful, these findings could help us unlock more new therapeutic avenues for Raynaud’s leading to better, more targeted and kinder treatments.

https://www.aninews.in/news/health/study-finds-genetic-causes-of-raynauds-phenomenon20230804211801/