Researchers made the discovery while carrying out genetic analysis using whole-genome sequencing data from 77,539 participants enrolled in the 100,000 Genomes Project, a large UK genetic database created to help researchers identify mutations responsible for diseases with unknown causes.
They discovered that many people with intellectual disabilities had mutations in RNU4-2 – a gene involved in chopping up and connecting sections of the genetic code together to form instructions, a crucial part of cell biology.
The link was validated using three other large databases, and researchers found 73 cases overall suggesting the gene was driving the neurodevelopmental problems.
Although many of the people with the mutation were found to have severe learning problems, sometimes accompanied by seizures or microcephaly (small heads) others had relatively mild symptoms, and were still able to hold down jobs and live independently.
The gene appears to have mutated spontaneously in most cases, with only a handful of instances where it had been inherited.
‘More treatable’
Dr Ernest Turro, associate professor of genetics and genomic sciences, at Icahn School of Medicine at Mount Sinai, New York, said: “It appears to be one of the most common of the neurodevelopmental disorders caused by errors in a single gene.
“We don’t understand precisely why this particular mutation seems to recur over and over again, why it is that DNA replication seems to make this particular error over and over, but that is very striking as well.
“But it also comes with some benefits potentially in the future, because it means that it will be potentially more feasible to develop a therapy that focuses on those effects individuals who have that particular variant so makes it potentially more treatable in the future.”
Not only would a genetic diagnosis help people understand the cause of the disorder, it would also reassure parents that they would not pass on the problem to future children.
The research was published in Nature Medicine.
Sarah Carter is a health and wellness expert residing in the UK. With a background in healthcare, she offers evidence-based advice on fitness, nutrition, and mental well-being, promoting healthier living for readers.
