Posted on June 16, 2016
Researchers from Princeton University and the University of Toronto report the identification of a genetic mutation that is linked to one type of scoliosis that can affect adolescents. Identified in a study of zebrafish, that also carry the mutated genes, the defect causes damage to the cilia that line the spinal canal, impeding fluid flow and causing curvature of the spine. The team additionally found that by repairing the mutated genes, the flow of cerebrospinal fluid was restored and spinal curvature could be prevented. The discovery could lead to the development of a new non-surgical treatment for idiopathic scoliosis that currently affects about 3% of adolescents. The results of the study were published last week in the journal Science.
The study is the first to link spinal curvature to mutations in genes that govern motile cilia, which stick out from cells and make synchronous whip-like motions to push fluid through narrow passages such as the spinal column. Senior author Brian Ciruna, PhD, associate professor of molecular genetics at the University of Toronto commented "Traditionally, theories regarding the biology behind idiopathic scoliosis have revolved around defects in the bone, cartilage or neuromuscular activity. 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." More work is needed to understand the mechanisms by which disrupted cerebrospinal fluid flow leads to spinal curvature. Read more about the findings here. The journal abstract may be read here.