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Glycan-based biomarkers for mucopolysaccharidoses.

Abstract：

:The mucopolysaccharidoses (MPS) result from attenuation or loss of enzyme activities required for lysosomal degradation of the glycosaminoglycans, hyaluronan, heparan sulfate, chondroitin/dermatan sulfate, and keratan sulfate. This review provides a summary of glycan biomarkers that have been used to characterize animal models of MPS, for diagnosis of patients, and for monitoring therapy based on hematopoietic stem cell transplantation and enzyme replacement therapy. Recent advances have focused on the non-reducing terminus of the glycosaminoglycans that accumulate as biomarkers, using a combination of enzymatic digestion with bacterial enzymes followed by quantitative liquid chromatography/mass spectrometry. These new methods provide a simple, rapid diagnostic strategy that can be applied to samples of urine, blood, cerebrospinal fluid, cultured cells and dried blood spots from newborn infants. Analysis of the non-reducing end glycans provides a method for monitoring enzyme replacement and substrate reduction therapies and serves as a discovery tool for uncovering novel biomarkers and new forms of mucopolysaccharidoses.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Lawrence R,Brown JR,Lorey F,Dickson PI,Crawford BE,Esko JD

doi

10.1016/j.ymgme.2013.07.016

subject

Has Abstract

pub_date

2014-02-01 00:00:00

pages

73-83

issue

2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(13)00264-3

journal_volume

111

pub_type

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