دورية أكاديمية
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease
| العنوان: | Mucopolysaccharidosis Type VI, an Updated Overview of the Disease |
|---|---|
| المؤلفون: | Francesca D’Avanzo, Alessandra Zanetti, Concetta De Filippis, Rosella Tomanin |
| المصدر: | International Journal of Molecular Sciences, Vol 22, Iss 24, p 13456 (2021) |
| بيانات النشر: | MDPI AG, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | lysosomal storage disorder, mucopolysaccharidosis type VI, Maroteaux–Lamy syndrome, dermatan sulfate, chondroitin 4-sulfate, ARSB, Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | Mucopolysaccharidosis type VI, or Maroteaux–Lamy syndrome, is a rare, autosomal recessive genetic disease, mainly affecting the pediatric age group. The disease is due to pathogenic variants of the ARSB gene, coding for the lysosomal hydrolase N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). The enzyme deficit causes a pathological accumulation of the undegraded glycosaminoglycans dermatan-sulphate and chondroitin-sulphate, natural substrates of ASB activity. Intracellular and extracellular deposits progressively take to a pathological scenario, often severe, involving most organ-systems and generally starting from the osteoarticular apparatus. Neurocognitive and behavioral abilities, commonly described as maintained, have been actually investigated by few studies. The disease, first described in 1963, has a reported prevalence between 0.36 and 1.3 per 100,000 live births across the continents. With this paper, we wish to contribute an updated overview of the disease from the clinical, diagnostic, and therapeutic sides. The numerous in vitro and in vivo preclinical studies conducted in the last 10–15 years to dissect the disease pathogenesis, the efficacy of the available therapeutic treatment (enzyme replacement therapy), as well as new therapies under study are here described. This review also highlights the need to identify new disease biomarkers, potentially speeding up the diagnostic process and the monitoring of therapeutic efficacy. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 22241345 1422-0067 1661-6596 |
| Relation: | https://www.mdpi.com/1422-0067/22/24/13456; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067 |
| DOI: | 10.3390/ijms222413456 |
| URL الوصول: | https://doaj.org/article/ebf361bd6bb1467aa3cad32feace05dd |
| رقم الأكسشن: | edsdoj.bf361bd6bb1467aa3cad32feace05dd |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22241345 14220067 16616596 |
|---|---|
| DOI: | 10.3390/ijms222413456 |