Study: New genetic mutation could leave thousands disabled

Scientists have discovered a new genetic mutation, a genetic defect that causes severe developmental delays in people and, in some cases, leads to disability.

A mutation that is not involved in making a protein can affect thousands of people and lead to disability, tells The Guardian. The 100,000 Genomes Project analyzed the DNA of nearly 9,000 participants with undiagnosed neurodevelopmental disorders, a group of defects associated with the functioning of the neurological system and brain. These include, for example, attention deficit disorder, autism and cerebral palsy. Research results published in the journal Nature.

After studying the DNA of hundreds of people from the US, UK and Europe, scientists have discovered mutation in the RNU4-2 genewhich causes a new disorder of the nervous system. The disease discovered causes severe developmental delays – many People with this disorder cannot speak, suffer from seizures and are forced to be fed through a tube.

This The gene mutation is also the cause of characteristic facial features: a cup-shaped upper ear, full cheeks, and downward-turned corners of the mouth.

The scientists discovered the change by chance in a gene not involved in making proteins, as most cases of neurodevelopmental disorders are caused by genes that the body uses to make proteins. Nicola Wiffin, associate professor at the Big Data Institute and the Centre for Human Genetics at the University of Oxford, said:

“It's unusual to find a disorder of the nervous system, but what's even more surprising is how common it is. It's surprisingly common. So there are a lot of questions about why we haven't noticed it before.”

According to scientists, This mutation may account for 0.5% of all neurodevelopmental disorders in people worldwide, and therefore affect hundreds of thousands of people:

“We know hundreds of patients, but one of the key problems is that we can only make a diagnosis when we have their complete genome.”

10-year-old Mia Joy was one of the participants in the study. Scientists were able to establish a new diagnosis for her, although three years ago doctors were powerless and gave up trying to find the cause of her illness. Mia's mother Nicole Sedore says with excitement:

“We had come to terms with the fact that we might never know. So you can only imagine our shock at this news. We are very grateful to every person in the research teams who worked tirelessly to find this diagnosis.”

According to Dr Nicola Wiffin, there are many benefits to having a diagnosis – it can take the weight off mothers who sometimes blame themselves for their children's condition, and it also offers the prospect of further research, including finding treatments:

“The lack of a diagnosis or explanation for why medical problems occur leaves patients and their families uncertain and afraid of other complications and wondering what to do next.”

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