Gene Responsible for Familial Scoliosis Discovered

For years researchers have been trying to uncover the origins of familial scoliosis, particularly from a genetic point of view. Many genes have been suspected of causing scoliosis amongst different populations, but the genes responsible for the familial form of the disease remained unknown. However, the discovery of the first gene causing familial scoliosis was recently announced by an international research team from the Foundation Yves Cotrel-Institut de France, published in The Journal of Clinical Investigation. A variation in the POC5 gene was initially identified by DNA sequencing collected from a large family in France, of whom several members are affected by idiopathic scoliosis. Other variants of the POC5 gene were detected in scoliotic families, and also in people whose scoliosis had no precedence in their families. The pathogenicity of POC5 variants was documented using zebrafish, a genetic animal model that has a spine, which revealed that the overexpression of the mutated POC5 gene led to the rotational deformation of the anterior-posterior axis of the spine in half of the zebrafish embryos. These deformations are similar to those observed in scoliosis patients. The data suggests that the mutations are dominant, confirming the human genetic analysis. Additionally, the protein is strongly expressed in the brain, within very precise structures in the midbrain. This leads the research team to believe that there is an association between the brain and idiopathic scoliosis. To read more about this research, click here.