Scientists have discovered a solitary, unexpected gene responsible for a condition that leads to intellectual disability
Scientists have made a significant breakthrough by identifying the genetic basis of a disorder that leads to intellectual disability. This disorder is estimated to affect approximately one in 20,000 young individuals. The researchers hope that their discovery will pave the way for a new diagnostic method that can provide answers and support to affected families.
According to the researchers, individuals with this condition exhibit a range of symptoms, including short stature, small heads, seizures, and low muscle mass. These findings were published in the journal Nature Medicine on Friday.
The study's senior author, Ernest Turro from the Icahn School of Medicine at Mount Sinai, expressed surprise at the prevalence of this disorder compared to other rare diseases associated with a single gene.
Dr. Charles Billington, a pediatric geneticist at the University of Minnesota who was not involved in the study, highlighted the challenge of identifying such syndromes due to their subtle nature. He emphasized that these syndromes often go unrecognized until the underlying cause is identified.
The researchers discovered that the mutations responsible for this disorder occur in a small "non-coding" gene, which means it does not provide instructions for protein production. This is a significant finding, as the majority of previously known genes linked to intellectual disability are protein-coding genes. Previous genetic studies have primarily focused on protein-coding genes, neglecting those that do not code for proteins.
To conduct this study, the researchers utilized comprehensive "whole-genome" sequencing data from 77,539 individuals participating in the British 100,000 Genomes Project, including 5,529 individuals with intellectual disability. The rare mutations identified in the gene known as RNU4-2 were strongly associated with the potential development of intellectual disability.
Andrew Mumford, the research director of the South West England NHS Genomic Medicine and one of the study authors, stated that this finding has the potential to provide diagnoses for thousands of families affected by this disorder.
1. Additional research is required, as stated by Mumford. The mechanism by which the mutation leads to the disorder is still not fully understood, and currently, there is no available treatment. However, Billington mentioned that laboratories should soon be able to provide testing for this condition. Furthermore, researchers emphasized the importance of families being able to connect and provide support for one another, reassuring them that they are not facing this challenge alone.
“That sense of community can be extremely reassuring,” Mumford noted.