IRMACS: The Interdisciplinary Colloquium: "Fishin' for Genes: Teleosts as Models for Human Idiopathic Scoliosis"

Abstract

Human idiopathic-type scoliosis (IS) accounts for 80% of all cases of spinal curvature, with an average incidence of 3-4% among school-age children. Since the deformity was first described by Hippocrates, the etiology has been unknown, largely because the phenotype is extremely complex and the lack of an animal genetic model. We introduce the first animal models that demonstrate morphological, developmental, and genetic similarities to human IS, using the guppy fish and the closely-related medaka. The fact that humans and fish share many genes with similar tissue and temporal expression characteristics is well established, making them a valuable asset for understanding the genetics of diseases that affect humans. Genes identified for idiopathic-type scoliosis (IS) in model fishes with similarities to the human IS deformity will be informative for understanding the causes of the human deformity. In addition, these animal models can be used to understand the molecular pathways and cellular physiology underlying spinal stability and curvature. Identification of the genes causing idiopathic-type curvature and understanding the physiology of curved individuals can lead to early diagnosis, and perhaps suggest new therapeutic interventions for this debilitating disease.