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The cartilage matrisome in adolescent idiopathic scoliosis

Bone Research 2020年第1期8卷 1-13页

作者： Carol AWise Diane Sepich Aki Ushiki Anas MKhanshour Yared HKidane nadja makki Christina AGurnett Ryan SGray Jonathan JRios Nadav Ahituv Lila Solnica-Krezel Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children2222 Welborn St.DallasTX 75219USA McDermott Center for Human Growth and Development University of Texas Southwestern Medical CenterDallasTX 75235USA Departments of Pediatrics University of Texas Southwestern Medical CenterDallasTX 75235USA Orthopaedic Surgery University of Texas Southwestern Medical CenterDallasTX 75235USA Department of Developmental Biology Washington University School of MedicineSt.LouisMO 63110USA Department of Bioengineering and Therapeutic Sciences University of California San FranciscoSan FranciscoCA 94158USA Institute for Human Genetics University of California San FranciscoSan FranciscoCA 94158USA Department of Anatomy and Cell Biology University of FloridaCollege of MedicineGainesvilleFL 32610USA Departments of Neurology Washington University School of MedicineSt LouisMO 63110USA Pediatrics Washington University School of MedicineSt LouisMO 63110USA Orthopaedic Surgery Washington University School of MedicineSt LouisMO 63110USA Department of Pediatrics Dell Pediatric Research InstituteUniversity of Texas at Austin Dell Medical SchoolAustinTX 78723USA

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.

关键词： cartilage adolescent scoliosis

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