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Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model.

Abstract：

:Mucopolysaccharidosis (MPS) type VII is a lysosomal storage disease caused by deficiency of the lysosomal enzyme β-glucuronidase (GUS), leading to accumulation of glycosaminoglycans (GAGs). Enzyme replacement therapy (ERT) effectively clears GAG storage in the viscera. Recent studies showed that a chemically modified form of GUS (PerT-GUS), which escaped clearance by mannose 6-phosphate and mannose receptors and showed prolonged circulation, reduced CNS storage more effectively than native GUS. Clearance of storage in bone has been limited due to the avascularity of the growth plate. To evaluate the effectiveness of long-circulating PerT-GUS in reducing the skeletal pathology, we treated MPS VII mice for 12 weeks beginning at 5 weeks of age with PerT-GUS or native GUS and used micro-CT, radiographs, and quantitative histopathological analysis for assessment of bones. Micro-CT findings showed PerT-GUS treated mice had a significantly lower BMD. Histopathological analysis also showed reduced storage material and a more organized growth plate in PerT-GUS treated mice compared with native GUS treated mice. Long term treatment with PerT-GUS from birth up to 57 weeks also significantly improved bone lesions demonstrated by micro-CT, radiographs and quantitative histopathological assay. In conclusion, long-circulating PerT-GUS provides a significant impact to rescue of bone lesions and CNS involvement.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Rowan DJ,Tomatsu S,Grubb JH,Haupt B,Montaño AM,Oikawa H,Sosa AC,Chen A,Sly WS

doi

10.1016/j.ymgme.2012.07.002

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

161-72

issue

1-2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(12)00258-2

journal_volume

107

pub_type

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