Scientists have identified two genes linked to a common circulatory condition that affects millions of people across the UK – and with them, a potential treatment.
When a person has Raynaud’s, their blood stops flowing properly to their fingers and toes – which can cause their skin to turn white or appear blue.
Symptoms of pain, numbness or pins and needles can last from a few minutes to a few hours.
In more serious cases, it can cause severe pain or ulcers.
It is most likely to occur when an affected person is cold, anxious or stressed, according to the NHS website.
Despite Raynaud’s being a common condition – charity Scleroderma and Raynaud’s UK estimates that it affects up to 10 million people in the UK alone – scientists said that it is under-investigated and that little was known about the genetics behind the condition.
In response, academics from Queen Mary University of London’s Precision Healthcare Research Institute (PHURI) and the Berlin Institute of Health set out to examine whether they could find genetic differences between people who have the condition and those who do not.
The team of researchers examined data from the UK Biobank study – a long term study which has the genetic and health information on more than half a million UK adults.
They compared genetic data from 5,147 people with Raynaud’s to more than 400,000 people who do not have the condition.
Scientists said found two genes linked Raynaud’s phenomenon. The first, known as ADRA2A, is a ‘classic stress receptor’ that causes small blood vessels to contract. The second IRX1, may regulate the ability of blood vessels to dilate.
The study, published in the journal Nature Communications, also identified that low blood sugar levels may have a ‘detrimental effect’ on people with Raynaud’s.
The researchers also replicated some of their findings using data from participants of British Bangladeshi and Pakistani origin from Queen Mary’s Genes and Health study.
The team said that their finding could help lead to the first effective treatment for people with Raynaud’s.
In the paper they suggest that a widely-used antidepressant called mirtazapine, which inhibits the function of ADRA2A, could be repurposed and tested as a potential treatment.
Commenting on the study, Dr Emma Blamont, head of research for Scleroderma and Raynaud’s UK, said: ‘Raynaud’s is a painful, chronic condition that affects around one in six people in the UK.
‘We know that attacks can be brought on by certain triggers like cold and stress, but relatively little is known about why some people experience Raynaud’s and others don’t.
‘For the millions of people living with this condition, simple everyday tasks can be a challenge, so 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.’
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