Please use this identifier to cite or link to this item: http://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, 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
RMID: 0030005690
DOI: 10.1093/clinchem/44.10.2094
Appears in Collections:Paediatrics publications

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