From genetics to epigenetics to unravel the etiology of adolescent idiopathic scoliosis.

Autor: Pérez-Machado G; EpiDisease S.L., University of Valencia. Scientific Park. Paterna, Valencia, Spain., Berenguer-Pascual E; EpiDisease S.L., University of Valencia. Scientific Park. Paterna, Valencia, Spain., Bovea-Marco M; Institute for Health Research La Fe, IISLaFe, Valencia, Spain., Rubio-Belmar PA; Institute for Health Research La Fe, IISLaFe, Valencia, Spain; Spine Surgery Unit, Hospital Universitari i Politècnic La Fe, Valencia, Spain., García-López E; EpiDisease S.L., University of Valencia. Scientific Park. Paterna, Valencia, Spain., Garzón MJ; EpiDisease S.L., University of Valencia. Scientific Park. Paterna, Valencia, Spain., Mena-Mollá S; EpiDisease S.L., University of Valencia. Scientific Park. Paterna, Valencia, Spain; Department of Physiology, University of Valencia, Faculty of Medicine and Dentistry, Valencia, Spain., Pallardó FV; EpiDisease S.L., University of Valencia. Scientific Park. Paterna, Valencia, Spain; Department of Physiology, University of Valencia, Faculty of Medicine and Dentistry, Valencia, Spain; Consortium Center for Biomedical Network Research ISCIII. Instituto de Salud Carlos III, Valencia, Spain; INCLIVA Health Research Institute, Valencia, Spain., Bas T; Institute for Health Research La Fe, IISLaFe, Valencia, Spain; Spine Surgery Unit, Hospital Universitari i Politècnic La Fe, Valencia, Spain., Viña JR; INCLIVA Health Research Institute, Valencia, Spain; Department of Biochemistry, University of Valencia, Faculty of Medicine and Dentistry, Valencia, Spain., García-Giménez JL; EpiDisease S.L., University of Valencia. Scientific Park. Paterna, Valencia, Spain; Department of Physiology, University of Valencia, Faculty of Medicine and Dentistry, Valencia, Spain; Consortium Center for Biomedical Network Research ISCIII. Instituto de Salud Carlos III, Valencia, Spain; INCLIVA Health Research Institute, Valencia, Spain. Electronic address: j.luis.garcia@uv.es.
Jazyk: angličtina
Zdroj: Bone [Bone] 2020 Nov; Vol. 140, pp. 115563. Date of Electronic Publication: 2020 Aug 05.
DOI: 10.1016/j.bone.2020.115563
Abstrakt: Scoliosis is defined as the three-dimensional (3D) structural deformity of the spine with a radiological lateral Cobb angle (a measure of spinal curvature) of ≥10° that can be caused by congenital, developmental or degenerative problems. However, those cases whose etiology is still unknown, and affect healthy children and adolescents during growth, are the commonest form of spinal deformity, known as adolescent idiopathic scoliosis (AIS). In AIS management, early diagnosis and the accurate prediction of curve progression are most important because they can decrease negative long-term effects of AIS treatment, such as unnecessary bracing, frequent exposure to radiation, as well as saving the high costs of AIS treatment. Despite efforts made to identify a method or technique capable of predicting AIS progression, this challenge still remains unresolved. Genetics and epigenetics, and the application of machine learning and artificial intelligence technologies, open up new avenues to not only clarify AIS etiology, but to also identify potential biomarkers that can substantially improve the clinical management of these patients. This review presents the most relevant biomarkers to help explain the etiopathogenesis of AIS and provide new potential biomarkers to be validated in large clinical trials so they can be finally implemented into clinical settings.
Competing Interests: Declaration of competing interest J.L.G.G., S.M.M., T.B. and F.V.P.C. are inventors of a patent application with reference: PCT/EP2016/063935, based on the measurement of a miRNA signature for AIS diagnosis and prognosis. J.L.G.G. and S.M.M. are currently the C.E.O. and C.S.O. of EpiDisease S.L., respectively. EpiDisease is a Spin-Off of the Centre for Biomedical Network Research on Rare Diseases (Spanish Institute of Health Instituto de Salud Carlos III), the Biomedical Research Centre INCLIVA and the University of Valencia. Other authors report no conflicts of interest.
(Copyright © 2020 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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