Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs
| Autor: | W Rommerskirch, K von Figura |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 1992 |
| Předmět: |
Arylsulfatase B
Arylsulfatase A Genetic Vectors Gene Expression Biology In Vitro Techniques 03 medical and health sciences 0302 clinical medicine Multiple sulfatase deficiency Chondro-4-Sulfatase medicine Steroid sulfatase Lysosomal storage disease Humans RNA Messenger Fibroblast Cerebroside-Sulfatase 030304 developmental biology Arylsulfatases 0303 health sciences Multidisciplinary Sulfatase DNA medicine.disease Molecular biology Lysosomal Storage Diseases medicine.anatomical_structure Retroviridae Biochemistry Steryl-Sulfatase Formylglycine-generating enzyme Protein Processing Post-Translational 030217 neurology & neurosurgery Research Article |
| Popis: | Multiple sulfatase deficiency (MSD) is an inherited lysosomal storage disease characterized by the deficiency of at least seven sulfatases. The basic defect in MSD is thought to be in a post-translational modification common to all sulfatases. In accordance with this concept, RNAs of normal size and amount were detected in MSD fibroblasts for three sulfatases tested. cDNAs encoding arylsulfatase A, arylsulfatase B, or steroid sulfatase were introduced into MSD fibroblasts and fibroblasts with a single sulfatase deficiency by retroviral gene transfer. Infected fibroblasts overexpressed the respective sulfatase polypeptides. While in single-sulfatase-deficiency fibroblasts a concomitant increase of sulfatase activities was observed, MSD fibroblasts expressed sulfatase polypeptides with a severely diminished catalytic activity. From these results we conclude that the mutation in MSD severely decreases the capacity of a co- or post-translational process that renders sulfatases enzymatically active or prevents their premature inactivation. |
| Databáze: | OpenAIRE |
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