New Delhi– An international team of scientists has identified a genetic mutation linked to a rare and severe developmental disorder that significantly impairs brain growth and function in children.
Led by researchers from the University of Otago–Ōtākou Whakaihu Waka in New Zealand, the study found that mutations in a gene called CRNKL1 are associated with a profound neurological condition marked by microcephaly (abnormally small head size), pontocerebellar hypoplasia (underdevelopment of the brainstem and cerebellum), seizures, and severe intellectual disability.
The study, published in the American Journal of Human Genetics, offers new insights into how the human body processes genetic information critical for brain development.
“Our bodies rely on a precise process called ‘splicing’ to interpret genetic instructions from our DNA,” said Associate Professor Louise Bicknell of the Rare Disorder Genetics Laboratory in Otago’s Department of Biochemistry. “Errors in this splicing mechanism are known to cause various genetic disorders. This new finding adds to a growing body of evidence linking such disruptions to serious brain developmental issues.”
The research team analyzed data from 10 unrelated families, nine of whom had children with identical genetic changes in the CRNKL1 gene. All affected individuals displayed similar symptoms, underscoring the strong connection between the mutation and the disorder.
Dr. Sankalita Ray Das, the study’s lead author and a postdoctoral researcher at Otago, emphasized the gene’s significance. “Our findings clearly demonstrate that CRNKL1 is essential for healthy brain development,” she said. “This research not only identifies a new genetic cause of a devastating neurological condition but also deepens our understanding of the complex genetic pathways that guide brain growth.”
The researchers noted that the discovery provides vital clarity for families affected by the condition and opens the door for future studies into why these mutations seem to target brain tissue specifically, despite the gene’s role in a broader cellular process.
“This knowledge brings meaning to families dealing with the unknown and lays the foundation for future research that could eventually lead to targeted therapies,” said Dr. Ray Das. (Source: IANS)
