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Glycosaminoglycans and mucopolysaccharidosis type III

Jakóbkiewicz-Banecka, Joanna and Gabig-Cimińska, Magdalena and Kloska, Anna and Malinowska, Marcelina and Piotrowska, Ewa and Banecka-Majkutewicz, Zyta and Banecki, Bogdan and Węgrzyn, Alicja and Węgrzyn, Grzegorz (2016) Glycosaminoglycans and mucopolysaccharidosis type III. Frontiers in Bioscience .

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Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-sulfatase) – causing MPS IIIA, NAGLU (coding for -N-acetylglucosaminidase) - causing MPS IIIB, HGSNAT (coding for acetyl CoA -glucosaminide acetyltransferase) - causing MPS IIIC), and GNS (coding for N-acetylglucosamine-6-sulfatase) – causing MPS IIID. The primary storage is responsible for some disease symptoms, but other arise as a result of secondary storage, including glycosphingolipids, and subsequent processes, like oxidative stress and neuroinflammation. Central nervous system is predominantly affected in all subtypes of MPS III. Heparan sulfate and its derivatives are the most commonly used biomarkers for diagnosis and prediction procedures. Currently, there is no therapy for Sanfilippo syndrome, however, clinical trials are ongoing for enzyme replacement therapy, gene therapy and substrate reduction therapy (particularly gene expression-targeted isoflavone therapy).

Item Type:Article
Subjects:Q Science > QH Natural history > QH301 Biology
Divisions:Laboratory of Molecular Biology (in Gdansk)
ID Code:1221
Deposited By: Prof. Magdalena Gabig-Cimińska
Deposited On:14 Oct 2016 08:54
Last Modified:14 Oct 2016 08:54

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