Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies
Open Access
- 29 March 2011
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 34 (3), 605-619
- https://doi.org/10.1007/s10545-011-9308-6
Abstract
A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active lysosomal glucocerebrosidase are described. Such probes, coined inhibodies, offer entirely new possibilities for more sophisticated molecular diagnosis, enzyme replacement therapy monitoring, and fundamental research.Keywords
This publication has 168 references indexed in Scilit:
- A monozygotic twin pair with highly discordant Gaucher phenotypesBlood Cells, Molecules, and Diseases, 2011
- Imaging of enzyme replacement therapy using PETProceedings of the National Academy of Sciences of the United States of America, 2010
- Participation of asparagine 370 and glutamine 235 in the catalysis by acid β-glucosidase: The enzyme deficient in Gaucher diseaseMolecular Genetics and Metabolism, 2009
- The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase MutationsArchives of Neurology, 2008
- Elevated globotriaosylsphingosine is a hallmark of Fabry diseaseProceedings of the National Academy of Sciences of the United States of America, 2008
- Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literatureAnnals of Hematology, 2008
- Epinephrine enhances lysosomal enzyme delivery across the blood–brain barrier by up-regulation of the mannose 6-phosphate receptorProceedings of the National Academy of Sciences of the United States of America, 2007
- Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluidMolecular Genetics and Metabolism, 2007
- Proteomics of specific treatment-related alterations in Fabry disease: A strategy to identify biological abnormalitiesProceedings of the National Academy of Sciences of the United States of America, 2007
- Mutation of β-glucosidase 2 causes glycolipid storage disease and impaired male fertilityJCI Insight, 2006