Synaptophysin and synaptojanin-1 in down syndrome are differentially affected by Alzheimer's disease

Sarah B. Martin, Amy L.S. Dowling, Joann Lianekhammy, Ira T. Lott, Eric Doran, M. Paul Murphy, Tina L. Beckett, Frederick A. Schmitt, Elizabeth Head

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


Adults with Down syndrome (DS) develop Alzheimer's disease (AD) neuropathology by 40 years of age. Synaptophysin (SYN) consistently declines with age and is further reduced with sporadic AD. Thus, we hypothesized that SYN would be reduced in DS with AD. The gene for synaptojanin-1 (SYNJ1), involved in synaptic vesicle recycling, is on chromosome 21. We measured SYN and SYNJ1 in an autopsy series of 39 cases with DS and 28 without DS, along with 7 sporadic AD cases. SYN was significantly lower in DSAD compared with DS alone and similar to sporadic AD. Reduced SYN is associated with AD neuropathology and with Aβ levels in DS, as is seen in sporadic AD. SYNJ1 was significantly higher in DS and correlated with several measures of Aβ. SYNJ1 was higher in DSAD and significantly higher than SYNJ1 in sporadic AD. Although significantly higher in DS, SYNJ1 is further increased with AD neuropathology suggesting interesting differences in a synapse-associated protein that is overexpressed in trisomy 21.

Original languageEnglish
Pages (from-to)767-775
Number of pages9
JournalJournal of Alzheimer's Disease
Issue number3
StatePublished - 2014

Bibliographical note

Publisher Copyright:
© 2014-IOS Press.


  • Amyloid-β
  • neuroinflammation
  • oligomers
  • synapses
  • synaptojanin
  • synaptophysin
  • trisomy 21

ASJC Scopus subject areas

  • General Neuroscience
  • Clinical Psychology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health


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