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\nA New Zealand-led research team has found new information about the cause of microcephaly, a disease that affects brain growth and function in children.
\nPhoto: Image by Gerd Altmann from Pixabay\n<\/p>\n
An Otago-led team has uncovered a genetic cause for a rare children’s brain disorder.<\/p>\n
University of Otago associate professor Louise Bicknell, co-author of the study, said the international research team were investigating microcephaly, a developmental disorder where children’s brains fail to grow.<\/p>\n
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\nDr Louise Bicknell says new research has helped pinpoint a genetic cause of the devastating children’s brain disease microcephaly.
\nPhoto: Supplied\/ University of Otago – Sharron Bennett\n<\/p>\n
They pinpointed specific changes in a gene called CRNKL1, and their findings were recently published in the prestigious American Journal of Human Genetics.<\/p>\n
It was the culmination of a seven-year study of a New Zealand family, Bicknell said.<\/p>\n
“Their wee girl had really severe microcephaly. Her brain was much smaller than we’d hoped for, and there were quite a few structural things that were abnormal about her brain, so quite unusual.”<\/p>\n
Researchers compared her brain structure with that of nine children overseas who also had the condition.<\/p>\n
“It was only then that, we realised they all had similar features, of a really small brain, as well as these structural [aspects] of other parts of the brain not being so usual.”<\/p>\n
In a striking discovery, nine of the families also showed genetic changes in the exact same spot in the CRNKL1 gene.<\/p>\n
It proved there was a strong link between these specific genetic changes and the disorder, and it was an exciting breakthrough, she said.<\/p>\n
“That’s when the heart starts racing and you know you are onto something. Your gut instinct kicks in and says, this can’t be a coincidence, this must be something.”<\/p>\n
Lead author Dr Sankalita Ray Das, a postdoctoral fellow at Otago’s Rare Disorder Genetics Laboratory, said the research findings clearly showed that CRNKL1 was “crucial” for healthy brain development.<\/p>\n
“Importantly, this knowledge has provided understanding for families affected by these severe conditions and lays the foundation for further research into why just the brain is affected by these genetic changes.”<\/p>\n
The researchers received funding from the Neurological Foundation of New Zealand, Cure Kids and the University of Otago, Bicknell said.<\/p>\n