Study Discovers New Genetic Cause for Scoliosis

A new study, published this summer in Science, is paving the way to understanding more about the biological basis of scoliosis, or abnormal, sideways curvature of the spine. Researchers now believe that cilia, slender hair-like structures that project from cells, may be the key to explaining more about the many cases of scoliosis with no known cause.

Even before we are born, cilia are integral to our health and development. In a developing embryo, cilia consistently beat fluid in a single direction towards the left, so the heart grows on the left side of the body. Cilia inside the spine move cerebrospinal fluid, a clear watery fluid that bathes the spinal chord and brain, acting as a cushion or buffer for the brain’s cortex, and providing basic mechanical and immunological protection.

The new study, led by Dr. Rebecca Burdine at Princeton, sought to demonstrate correlation between defective cilia that cannot beat properly, hindering the flow of spinal fluid, and scoliosis. Though an uncommon lab animal, researchers chose to study zebrafish as a model, rather than mice, who walk on four feet, which stabilizes the spine. Dr. Burdine also chose zebrafish because she noted a common, striking mutation that bent the fishes’ spine into a permanent C, like an extreme case of scoliosis. Burdine and her team discovered that the curly zebrafish had defective cilia, hypothesizing that when the regular flow of the cerebrospinal fluid stops, the spine begins to curve.

To prove that defective cilia led to curved spines, Burdine took advantage of the mutation’s sensitivity to temperature. The team raised zebrafish with nonfunctioning cilia at a cool temperature for 19 days and transferred them to warmer tanks, where they deduced that the fish’s spines would begin to curve. For all five cilia-related mutations that the team studied, the zebrafishes’ spines curved in the warmer tanks. The longer time that the fish spent in the warm tanks, the more intense the curves of their spines. Most notably, when researchers restored the flow of cerebrospinal fluid, the fishes’ curves could be partially rescued.

While there is no one-scoliosis gene, these cilia mutations may explain some of the cases doctors currently term “idiopathic,” or for which the cause is unknown. Additionally, the study may help in the development of new treatments, aside from traditional back braces and scoliosis surgery. If the same mechanism in zebrafish is shared in humans, researchers could potentially develop similar treatments to help restore the flow of cerebrospinal fluid and normal curvature.

Have you or a loved one been diagnosed with scoliosis? Contact our office for a consultation to discuss treatment options with a top spinal scoliosis specialist.

About Dr. McCance

For the past two decades, Dr. Sean McCance, a board certified NYC spine surgeon, has directed one of the leading spine practices in New York, Spine Associates, including lumbar (back) & cervical (neck) injury diagnosis and surgery. Since establishing his best in class practice on the Upper East Side in Manhattan, Dr. McCance has performed over 4,000 spine surgeries, and has been recognized by his peers as one of the most accomplished spine surgeons in the field. Dr. McCance’s philosophy of direct management of each case by an expert spine surgeon, and highly personalized and comprehensive approach has made Spine Associates one of the most trusted and respected spine surgery practices in the world.

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