A team of international researchers has uncovered a new genetic cause for a rare developmental disorder that profoundly impacts brain growth and function in children.
The team led by the University of Otago-Otakou Whakaihu Waka from New Zealand pinpointed specific changes in a gene called CRNKL1 that can potentially cause a severe genetic disorder that results in affected individuals having profound pre- and postnatal microcephaly (smaller head circumference), with pontocerebellar hypoplasia (underdevelopment in brain stem and cerebellum), seizures and severe intellectual disability.
The finding sheds new light on the complex process by which human bodies create the "instruction manuals" essential for building and maintaining our brains, said Louise Bicknell, Associate Professor, from the Rare Disorder Genetics Laboratory in Otago's Department of Biochemistry.
"Our bodies rely on a precise process called 'splicing' to read and process genetic instructions from our DNA and help generate the building blocks required in our body," Bicknell said.
"While it's known that problems with the machinery that coordinates splicing can cause various genetic disorders, this new finding adds to a small but growing recognition of the potentially severe impact on brain development in particular."
In the study, published in the American Journal of Human Genetics, the team studied 10 families, of which nine showed genetic changes in the exact same spot in the CRNKL1 gene.
All the affected children shared the same severe features, highlighting the strong link between these specific genetic changes and the disorder.
The research findings clearly show that CRNKL1 is crucial for healthy brain development, said lead author Dr. Sankalita Ray Das, a Postdoctoral researcher in the Rare Disorder Genetics Laboratory.
The finding not only identifies a new genetic cause for a severe neurological disorder but also offers further clues into the complex ways our genes guide brain development, she said.
"Importantly, this knowledge has provided understanding for families affected by these severe conditions and lays the foundation for further research into why only the brain is affected by these genetic changes."
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