1. The cartilage matrisome in adolescent idiopathic scoliosis
- Author
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Ryan S. Gray, Diane S. Sepich, Aki Ushiki, Lila Solnica-Krezel, Nadja Makki, Yared H. Kidane, Christina A. Gurnett, Nadav Ahituv, Jonathan J. Rios, Anas M. Khanshour, and Carol Wise
- Subjects
0301 basic medicine ,Pediatric Research Initiative ,Histology ,Physiology ,Endocrinology, Diabetes and Metabolism ,Clinical Sciences ,Genome-wide association study ,Scoliosis ,Review Article ,Pathogenesis ,Bioinformatics ,lcsh:Physiology ,03 medical and health sciences ,0302 clinical medicine ,Genetics ,Deformity ,2.1 Biological and endogenous factors ,Medicine ,Aetiology ,lcsh:QH301-705.5 ,Pediatric ,lcsh:QP1-981 ,business.industry ,Cartilage ,Human Genome ,Intervertebral disc ,medicine.disease ,Spinal column ,Genetic architecture ,Bone quality and biomechanics ,Developmental disorder ,030104 developmental biology ,medicine.anatomical_structure ,lcsh:Biology (General) ,Musculoskeletal ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
The human spinal column is a dynamic, segmented, bony, and cartilaginous structure that protects the neurologic system and simultaneously provides balance and flexibility. Children with developmental disorders that affect the patterning or shape of the spine can be at risk of neurologic and other physiologic dysfunctions. The most common developmental disorder of the spine is scoliosis, a lateral deformity in the shape of the spinal column. Scoliosis may be part of the clinical spectrum that is observed in many developmental disorders, but typically presents as an isolated symptom in otherwise healthy adolescent children. Adolescent idiopathic scoliosis (AIS) has defied understanding in part due to its genetic complexity. Breakthroughs have come from recent genome-wide association studies (GWAS) and next generation sequencing (NGS) of human AIS cohorts, as well as investigations of animal models. These studies have identified genetic associations with determinants of cartilage biogenesis and development of the intervertebral disc (IVD). Current evidence suggests that a fraction of AIS cases may arise from variation in factors involved in the structural integrity and homeostasis of the cartilaginous extracellular matrix (ECM). Here, we review the development of the spine and spinal cartilages, the composition of the cartilage ECM, the so-called “matrisome” and its functions, and the players involved in the genetic architecture of AIS. We also propose a molecular model by which the cartilage matrisome of the IVD contributes to AIS susceptibility.
- Published
- 2019