Integrating intrinsic musculoskeletal pathology and genetics: Recent advances in unravelling the causative factors of adolescent idiopathic scoliosis

Abstract

Adolescent Idiopathic Scoliosis (AIS) is a common paediatric spinal disorder of incompletely understood aetiology. Current interventions include bracing and invasive surgery. However, determining which patients will benefit from observation, bracing, or surgery remains challenging due to the difficulty in predicting disease progression. A number of factors have previously been purported to play a causative role including hormones and biomechanics. However, recently GWAS and in vitro studies have provided insight into the underlying signalling pathways and intrinsic factors that act as drivers of AIS pathology across different tissue types, including spinal bone tissue, paraspinal muscles and cartilage. This review will explore these recent findings and evaluate their links to systemic factors as possible intrinsic drivers underpinning AIS pathophysiology and development.