Literature summary for 3.10.1.1 extracted from

Maccari, F.; Sorrentino, N.C.; Mantovani, V.; Galeotti, F.; Fraldi, A.; Volpi, N.
Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase engineered to cross the blood-brain barrier (2017), Metab. Brain Dis., 32, 203-210 .

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Application

Application	Comment	Organism
medicine	mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A) is a neurodegenerative lysosomal storage disorder caused by the deficiency of sulphamidase enzyme (SGSH) leading to accumulation of heparan sulfate. Primary stored heparan sulfate and other glycosaminoglycans possibly accumulated through a secondary storage in brain, liver, kidney and lung of MPS IIIA mouse model is quantitatively and structurally characterized. The analysis is also performed in MPS IIIA mice upon the intravenous treatment with an engineered human sulphamidase (chimeric hSGSH) capable to increase its secretion from the liver and to cross the bloodbrain barrier. MPS IIIA animals show a huge accumulation of heparan sulfate, from about 15 up to about 24times higher than wild type and also of hyaluronic acid (from 2.5 up to about 5.0times more) and chondroitin sulfate/dermatan sulfate (from about 2 up to about 5times more) in all studied organs. A significant increase in the overall heparan sulfate charge density is observed and in particular of 2-O-sulfation in MPS IIIA mice organs. 8 months after a systemic treatment with an engineered SGSH, the enzyme is highly efficient in the reduction of all accumulated glycosaminoglycans in liver, brain and lung up to values of wild type mice. Even if reduced, glycosaminoglycans levels still remain significantly elevated in kidney. The data obtained by analysis of glycosaminoglycans in the different organs of affected and treated animals with chimeric human sulphamidase enzyme may have implications for the evaluation of an effective therapeutic option of MPS IIIA and for the reduction of related neuropathology	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
heparan sulfate + H2O	Homo sapiens	-	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P51688	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
heparan sulfate + H2O	-	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
SGSH	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A) is a neurodegenerative lysosomal storage disorder caused by the deficiency of sulphamidase enzyme (SGSH) leading to accumulation of heparan sulfate	Homo sapiens

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Release 2023.1 (January 2023)