Altered cerebrospinal fluid levels of amyloid β and amyloid precursor-like protein 1 peptides in Down's syndrome

Neuromolecular Med. 2014 Jun;16(2):510-6. doi: 10.1007/s12017-014-8302-1. Epub 2014 Apr 18.

Abstract

Down's syndrome (DS) patients develop early Alzheimer's disease pathology with abundant cortical amyloid plaques, likely due to overproduction of the amyloid precursor protein (APP), which subsequently leads to amyloid β (Aβ) aggregation. This is reflected in cerebrospinal fluid (CSF) levels of the 42-amino acid long Aβ peptide (Aβ1-42), which are increased in young DS patients and decreases with age. However, it is unclear whether DS also affects other aspects of Aβ metabolism, including production of shorter C- and N-terminal truncated Aβ peptides, and production of peptides from the amyloid precursor-like protein 1 (APLP1), which is related to APP, and cleaved by the same enzymatic processing machinery. APLP1-derived peptides may be surrogate markers for Aβ1-42 production in the brain. Here, we used hybrid immunoaffinity-mass spectrometry and enzyme-linked immunosorbent assays to monitor several Aβ and APLP1 peptides in CSF from DS patients (n = 12) and healthy controls (n = 20). CSF levels of Aβ1-42 and three endogenous peptides derived from APLP1 (APL1β25, APL1β27 and APL1β28) were decreased in DS compared with controls, while a specific Aβ peptide, Aβ1-28, was increased in a majority of the DS individuals. This study indicates that DS causes previously unknown specific alterations of APP and APLP1 metabolism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Amino Acid Sequence
  • Amyloid beta-Peptides / cerebrospinal fluid*
  • Amyloid beta-Protein Precursor / cerebrospinal fluid*
  • Biomarkers / cerebrospinal fluid
  • Down Syndrome / cerebrospinal fluid*
  • Enzyme-Linked Immunosorbent Assay
  • Female
  • Fibrinolysin / metabolism
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Peptide Fragments / cerebrospinal fluid*
  • Protein Processing, Post-Translational
  • Tandem Mass Spectrometry
  • Young Adult

Substances

  • APLP1 protein, human
  • Amyloid beta-Peptides
  • Amyloid beta-Protein Precursor
  • Biomarkers
  • Peptide Fragments
  • amyloid beta-protein (1-28)
  • amyloid beta-protein (1-42)
  • Fibrinolysin