Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/7131
Citations | ||
Scopus | Web of ScienceĀ® | Altmetric |
---|---|---|
?
|
?
|
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 |
Published version: | http://dx.doi.org/10.1093/clinchem/44.10.2094 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.