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Study links scoliosis to gene mutations which disrupt spinal fluid flow

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Researchers may be one step closer to identifying the biological basis of idiopathic scoliosis (curvature of the spine), a condition that affects 3% of children worldwide.

A study in zebrafish — a tiny tropical fish with a genetic code similar to that of humans — has linked adolescent idiopathic scoliosis to irregular fluid flow through the spinal column brought on by mutations in genes.

Found in humans and zebrafish, these mutated genes damage the cilia — tiny hair-like projections that line the spinal canal and help move the fluid — and lead to a curvature of the spine, Princeton University explained.

Scientists from Princeton University and the University of Toronto found that when they repaired the mutated cilia genes, they restored cerebrospinal fluid flow and could prevent spinal curves from developing.

If translatable to humans, the study could lead to a new, non-surgical approach for treating the condition.

The findings have been published in the journal Science.

“This is the first hint of a biological mechanism for idiopathic scoliosis,” said Rebecca Burdine, associate professor of molecular biology at Princeton, and a senior author of the study. “We hope this research will open up new areas of inquiry as to how the disruptions to normal cerebrospinal fluid flow can lead to spinal curvature.”

Burdine´s lab worked on the study in collaboration with a team led by senior author Brian Ciruna, an associate professor of molecular genetics at the University of Toronto and a senior scientist at the Hospital for Sick Children in Toronto.

“Traditionally, theories regarding the biology behind idiopathic scoliosis have revolved around defects in the bone, cartilage or neuromuscular activity,” Ciruna said. “The finding that defects in cerebrospinal fluid flow may be contributing to scoliosis came as a surprise. It is not a theory that had been put out there previously.”