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Mol Genet Metab. 2014 Feb;111(2):73-83. doi: 10.1016/j.ymgme.2013.07.016. Epub 2013 Jul 29.

Glycan-based biomarkers for mucopolysaccharidoses.

Author information

1
Department of Cellular and Molecular Medicine, Glycobiology Research and Training Center, University of California San Diego, La Jolla, CA 92093, USA.
2
Zacharon Pharmaceuticals, Inc., San Diego, CA 92121, USA.
3
Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA.
4
Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA, Torrance, CA 90502, USA.
5
Zacharon Pharmaceuticals, Inc., San Diego, CA 92121, USA. Electronic address: bcrawford@bmrn.com.
6
Department of Cellular and Molecular Medicine, Glycobiology Research and Training Center, University of California San Diego, La Jolla, CA 92093, USA. Electronic address: jesko@ucsd.edu.

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.

KEYWORDS:

Carbohydrate biomarkers; Glycosaminoglycans; Lysosomal storage disorders; Mass spectrometry; Mucopolysaccharidoses; Sensi-Pro assay

PMID:
23958290
PMCID:
PMC3769472
DOI:
10.1016/j.ymgme.2013.07.016
[Indexed for MEDLINE]
Free PMC Article
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