Genetic animal modeling for idiopathic scoliosis research: history and considerations

Abstract

Purpose: Idiopathic scoliosis (IS) is defined as a structural lateral spinal curvature ≥ 10° in otherwise healthy children and is the most common pediatric spinal deformity. IS is known to have a strong genetic component; however, the underlying etiology is still largely unknown. Animal models have been used historically to both understand and develop treatments for human disease, including within the context of IS. This intended audience for this review is clinicians in the fields of musculoskeletal surgery and research.

Methods: In this review article, we synthesize current literature of genetic animal models of IS and introduce considerations for researchers.

Results: Due to complex genetic and unique biomechanical factors (i.e., bipedalism) hypothesized to contribute to IS in humans, scoliosis is a difficult condition to replicate in model organisms.

Conclusion: We advocate careful selection of animal models based on the scientific question and introduce gaps and limitations in the current literature. We advocate future research efforts to include animal models with multiple characterized genetic or environmental perturbations to reflect current understanding of the human condition.

Keywords: Animal models; CRISPR/Cas9; Genetics; Idiopathic scoliosis; Review; Spine.