Science Times: Abnormal Cerebrospinal Fluid Flow: A New Model of Idiopathic Scoliosis

As its name suggests, idiopathic scoliosis (IS) is a diagnosis made with unknown pathological factors that could give rise to observed scoliotic changes. It has been reported at rates of 3% to 5.2% in pediatric and adolescent populations and occurs more frequently in females than males (3:1).1 Disease progression and sequelae are largely a function of the location and severity of scoliotic curves, as well as the rate and manner in which these curves change over time. For example, curves in the thoracic spine have been reported as most vulnerable to progression and can cause cardiovascular or pulmonary pathology.2 Early detection has proven beneficial in patients treated conservatively (eg, bracing or casting) and surgically.3,4 However, as long as the cause of IS remains unknown, therapy can be initiated only after the scoliotic changes have begun, eliminating the opportunity for physicians to prevent these deformities from developing at all.

With a series of experiments, a joint team including researchers at Princeton University and the University of Toronto has recently identified a possible pathogenic mechanism for IS in zebrafish as a model for human spinal development.5 Their data show that mutations in protein tyrosine kinase-7 (ptk7, a signaling pathway regulator) impair the growth and function of ependymal cell (EC) cilia, preventing the proper flow of cerebrospinal fluid (CSF). Importantly, these mutations and CSF flow irregularities are directly associated with deformities in the developing spine that parallel the human manifestations of IS.

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