Flu and paralysis: a mysterious gene could explain the devastating link

O.D.
English Section / 21 iulie

Flu and paralysis: a mysterious gene could explain the devastating link

Versiunea în limba română

A new scientific study brings hope to families affected by unexplained paralysis in children after seemingly minor respiratory infections. Researchers at the University of Manchester have identified a rare genetic mutation, associated with severe reactions to flu or viruses, which can lead to permanent paralysis. The discovery, published in the prestigious journal Lancet Neurology, indicates that the change in a gene called RCC1 is responsible for damage to the nervous system following seemingly trivial infections.

Dramatic cases, delayed explanations

Among the patients analyzed is Timothy Bingham, a young man who was paralyzed from the age of 2 after a minor respiratory infection. Just a few years after the first episode, a new infection affected the rest of his body. Today, Timothy is 28 years old, lives in a wheelchair and depends on constant care. "What seemed like a simple cold has had devastating consequences. She can't move in bed, she can't cough or swallow liquids without help. The fact that we now know where it all comes from means a lot to us,” said her mother, Kate Bingham, with emotion. Another case that triggered the research is that of an 8-month-old girl in 2011, who lost her ability to breathe on her own after a respiratory infection. Suspicions grew after her siblings also showed similar reactions, which led researchers to look for a genetic cause.

Genes that can trigger a medical nightmare

Study coordinator, Professor Bill Newman, identified the same mutation of the RCC1 gene in 24 children from 12 families in Europe and Asia. The mutation affects the way the nervous system responds to infections, generating violent autoimmune reactions that destroy nerves. The disease "mimics” Guillain-Barre syndrome - a rare neurological condition in which the immune system attacks the peripheral nerves - and "overlaps” with symptoms of motor neurone disease, such as progressive muscle weakness and respiratory failure.

"This is a huge step towards understanding why some previously healthy children become paralysed after a simple viral infection,” explains Professor Newman. "The fact that genes are involved opens up a new avenue of treatment: intervening before neurological damage occurs.”

Hope for preventive treatment

A key component of the research is the possibility of early diagnosis. Children carrying the RCC1 gene mutation could be identified before irreversible damage occurs, and doctors could intervene preemptively with immunomodulatory or antiviral therapies. The study was funded by the UK's National Institute for Health and Care Research, as well as LifeArc and the Wellcome Trust.

"This is a breakthrough that gives families answers and could change the lives of children at risk. For decades, these cases have been a medical mystery. Now we are finally starting to understand what is happening," Newman said.

For the families involved, the discovery is not only a scientific achievement, but also an emotional reconstruction. After years of uncertainty, a clear explanation for tragedies that are difficult to understand is emerging.

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