Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7131
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Type: Journal article
Title: Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders
Author: Hua, C.
Hopwood, J.
Carlsson, S.
Harris, R.
Meikle, P.
Citation: Clinical Chemistry (Washington, DC): international journal of molecular diagnostics and laboratory medicine, 1998; 44(10):2094-2102
Publisher: AMER ASSOC CLINICAL CHEMISTRY
Issue Date: 1998
ISSN: 0009-9147
1530-8561
Abstract: For 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.
Keywords: Lysosomes
Humans
Lysosomal Storage Diseases
Membrane Glycoproteins
Antigens, CD
Immunoassay
Blood Specimen Collection
Electrophoresis, Polyacrylamide Gel
Reference Values
Adolescent
Adult
Aged
Middle Aged
Child
Child, Preschool
Infant
Infant, Newborn
Australia
Lysosome-Associated Membrane Glycoproteins
Biomarkers
DOI: 10.1093/clinchem/44.10.2094
Appears in Collections:Aurora harvest 5
Paediatrics publications

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