Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders.

ABSTRACT: Mucopolysaccharidosis, type IIIB (MPS IIIB) is a rare disease caused by mutations in the N-alpha-acetylglucosaminidase (NAGLU) gene resulting in decreased or absent enzyme activity. On the cellular level, the disorder is characterized by the massive lysosomal storage of heparan sulfate (HS)-one species of glycosaminoglycans. HS is a sulfur-rich macromolecule, and its accumulation should affect the turnover of total sulfur in cells; according to the studies presented here, it, indeed, does. The lysosomal degradation of HS in cells produces monosaccharides and inorganic sulfate (SO₄^2-). Sulfate is a product of L-cysteine metabolism, and any disruption of its levels affects the entire L-cysteine catabolism pathway, which was first reported in 2019. It is known tha

SUBMITTER: Kaczor-Kaminska M 

PROVIDER: S-EPMC9026333 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature