Therapies of mucopolysaccharidosis IVA (Morquio A syndrome)
| Autor: | Tadao Orii, Adriana M. Montaño, Eriko Yasuda, Luis A. Barrera, Tsutomu Shimada, Hector Barbosa, Carlos J. Alméciga-Díaz, William G. Mackenzie, Robert W. Mason, Kenji E. Orii, Yasuyuki Suzuki, Shunji Tomatsu |
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| Rok vydání: | 2014 |
| Předmět: |
Pathology
medicine.medical_specialty Keratan sulfate business.industry Health Policy Mucopolysaccharidosis Cartilage Sulfatase Enzyme replacement therapy medicine.disease Chondrogenesis Mucopolysaccharidosis Type IVA Article chemistry.chemical_compound medicine.anatomical_structure chemistry Immunology medicine Pharmacology (medical) business Pharmacology Toxicology and Pharmaceutics (miscellaneous) Endochondral ossification |
| Zdroj: | Expert opinion on orphan drugs. 1(10) |
| ISSN: | 2167-8707 |
| Popis: | Introduction: Morquio A syndrome (mucopolysaccharidosis type IVA, MPS IVA) is one of the lysosomal storage diseases and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme leads to accumulation of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S). The majority of KS is produced by chondrocytes, and therefore, the undegraded substrates accumulate mainly in cells and extracelluar matrix (ECM) of cartilage. This has a direct impact on cartilage and bone development, leading to systemic skeletal dysplasia. In patients with Morquio A, cartilage cells are vacuolated, and this results in abnormal chondrogenesis and/or endochondral ossification. Areas covered: This article describes the advanced therapies of Morquio A, focused on enzyme replacement therapy (ERT) and gene therapy to deliver the drug to avascular bone lesions. ERT and gene therapies for other types of MPS are also discussed, which provide therapeutic efficacy to b... |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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