Chondroitin sulfate and growth factor signaling in the skeleton: Possible links to MPS VI.

Journal of Pediatric Rehabilitation Medicine
Tamara Alliston

Abstract

Mucopolysaccharidosis type VI (MPS VI), also called Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficiency of a specific enzyme required for glycosaminoglycan catabolism. Deficiency in the N-acetylgalactosamine-4-sulfatase (4S) enzyme, also called arylsulfatase B (ARSB), may have profound skeletal consequences. In MPS VI, partially degraded glycosaminoglycans (GAGs) such as dermatan sulfate and chondroitin sulfate accumulate within lysosomes. Through mechanisms that remain unclear, the abnormal GAG metabolism impacts several aspects of cellular function, particularly in the growth plate. This article explores the hypothesis that accrued partially degraded GAGs may contribute to deregulation of signaling pathways that normally orchestrate skeletal development, with a focus on members of the transforming growth factor-β (TGF-β) family. Understanding the molecular mechanisms disrupted by MPS VI may yield insight to improve the efficacy of MPS VI therapies, including bone marrow transplantation and enzyme replacement therapies.

Citations

Feb 7, 2020·International Journal of Molecular Sciences·Akari Nakamura-UtsunomiyaSatoshi Okada
Jan 18, 2019·American Journal of Medical Genetics. Part a·Piranit N KantaputraPranoot Tanpaiboon
Dec 22, 2011·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Juliane SalbachLorenz C Hofbauer
Aug 27, 2013·Journal of Inherited Metabolic Disease·Piranit Nik KantaputraAshwin Dalal
May 4, 2018·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·Moema Ferreira Dos ReisLuiz Carlos Santana da Silva

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