Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders

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dc.contributor.authorHua, C.
dc.contributor.authorHopwood, J.
dc.contributor.authorCarlsson, S.
dc.contributor.authorHarris, R.
dc.contributor.authorMeikle, P.
dc.date.issued1998
dc.description.abstractFor many lysosomal storage disorders, presymptomatic detection, before the onset of irreversible pathology, will greatly improve the efficacy of current and proposed therapies. In the absence of a family history, presymptomatic detection can be achieved only by a comprehensive newborn screening program. Recently we reported that the lysosome-associated membrane protein LAMP-1 was increased in the plasma from approximately 70% of individuals with lysosomal storage disorders. Here we report on the evaluation of a second lysosome-associated membrane protein, LAMP-2, as a marker for this group of disorders. The median concentration of LAMP-2 in the plasma of healthy individuals was 1.21 mg/L, fourfold higher than the median LAMP-1 concentration (0.31 mg/L). LAMP-2 was increased in >66% of patients with lysosomal storage disorders, and the increases coincided with increased LAMP-1 concentrations. The reference intervals for LAMP-1 and LAMP-2 in blood spots taken from newborns were 0.20-0.54 mg/L (n = 1600) and 0.95-3.06 mg/L (n = 1600), respectively. A high correlation was observed between the concentrations of LAMP-1 and LAMP-2 in both control and affected individuals. The higher concentrations of LAMP-2, relative to LAMP-1, in plasma make LAMP-2 an attractive marker; however, the final selection will be dependent on the availability of new diagnostic markers and their ability to detect disorders currently not identified by LAMP-2.
dc.identifier.citationClinical Chemistry, 1998; 44(10):2094-2102
dc.identifier.doi10.1093/clinchem/44.10.2094
dc.identifier.issn0009-9147
dc.identifier.issn1530-8561
dc.identifier.urihttp://hdl.handle.net/2440/7131
dc.language.isoen
dc.publisherAMER ASSOC CLINICAL CHEMISTRY
dc.source.urihttps://doi.org/10.1093/clinchem/44.10.2094
dc.subjectLysosomes
dc.subjectHumans
dc.subjectLysosomal Storage Diseases
dc.subjectMembrane Glycoproteins
dc.subjectAntigens, CD
dc.subjectImmunoassay
dc.subjectBlood Specimen Collection
dc.subjectElectrophoresis, Polyacrylamide Gel
dc.subjectReference Values
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectMiddle Aged
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectInfant
dc.subjectInfant, Newborn
dc.subjectAustralia
dc.subjectBiomarkers
dc.subjectLysosomal Membrane Proteins
dc.titleEvaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders
dc.typeJournal article
pubs.publication-statusPublished

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