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

Clin Chem. 1998 Oct;44(10):2094-102.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Antigens, CD / blood*
  • Australia
  • Biomarkers / blood
  • Blood Specimen Collection
  • Child
  • Child, Preschool
  • Electrophoresis, Polyacrylamide Gel
  • Humans
  • Immunoassay
  • Infant
  • Infant, Newborn
  • Lysosomal Membrane Proteins
  • Lysosomal Storage Diseases / blood*
  • Lysosomes / metabolism*
  • Membrane Glycoproteins / blood*
  • Middle Aged
  • Reference Values

Substances

  • Antigens, CD
  • Biomarkers
  • Lysosomal Membrane Proteins
  • Membrane Glycoproteins