Recent progress in genetics of adolescent idiopathic scoliosis

Introduction Scoliosis is a three-dimensional deformity of the spine with lateral curvature combined with vertebral rotation. Occurrence of a melatonin signaling dysfunction in cells derived from patients with adolescent idiopathic scoliosis (AIS) was reported by Moreau et al. It was shown that serine phosphorylation of Gi proteins α-subunits was involved although the source of such aberrant phosphorylation remains unknown. The goal of this research project is to identify the kinase(s) and/or phosphatase(s) involved in the melatonin signaling defect observed in AIS. We have used a candidate gene driven approach and found the Tyrosine Phosphatase x (PTPx) and a second molecule termed HSJ-1, which controls the activity of this tyrosine phosphatase.