Bid to help families results in discovery
A journey to help 10 New Zealand families get answers for rare brain disorders affecting their children has led to the discovery of the genetic cause.
Co-author and associate professor at the University of Otago Rare Disorder Genetics Laboratory Louise Bicknell said the discovery shed new light on the "incredibly complex" process by which human bodies created the "instruction manuals" essential for building and maintaining our brains.
"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.
"While it's known that problems with the machinery that co-ordinates splicing can cause various genetic disorders, this new finding adds to a small but growing recognition of the potential severe impact on brain development in particular."
The research team studied 10 New Zealand families impacted by a severe genetic disorder that resulted 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 findings, published in the American Journal of Human Genetics, pinpointed specific changes in a gene called CRNKL1.
"Our journey to this discovery began here in New Zealand, through trying to help New Zealand families get answers for genetic disorders affecting their children," Prof Bicknell said.
"Then, using our international connections, we were able to identify other families around the world, which was crucial for confirming our findings and understanding the full impact of these genetic changes."
In a striking discovery, nine of these families showed genetic changes in the exact same spot in the CRNKL1 gene, she said.
All the affected children shared the same severe features, highlighting the strong link between these specific genetic changes and the disorder.
Lead author and postdoctoral fellow at the University of Otago Rare Disorder Genetics Laboratory Dr Sankalita Ray Das said the research showed CRNKL1 was crucial for healthy brain development, and that specific parts of the splicing machine had highly specialised roles — far more intricate than scientists previously thought.
She said the finding also offered further clues into the complex ways human genes guided brain development.
john.lewis@odt.co.nz
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