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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.

PRACTICE QUESTION Q. Consider the following statements about Raynaud’s phenomenon (RP) Raynaud’s phenomenon (RP) is a heritable blood circulation disorder.  It’s a vasopastic disorder, which implies that small blood vessels near the skin’s surface spasm, limiting blood flow. Alpha-2A-adrenergic receptor for adrenaline, ADRA2A, gene is one of the factors leading to the disease. How many of the above  statements are correct? 1 and 2 only 1 and 3 only 2 and 3 only All are correct Ans: D

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