Cited by 64Down syndrome and intellectual disability researchAlzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Synaptophysin and Synaptojanin-1 in Down Syndrome are Differentially Affected by Alzheimer's Disease

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Martin, Sarah B., Dowling, Amy L.S., Lianekhammy, Joann, Lott, Ira T., Doran, Eric, Murphy, M. Paul, Beckett, Tina L., Schmitt, Frederick A. +1 more·2014·Journal of Alzheimer's Disease

Abstract

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.

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Crossref · 10.3233/jad-140795

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  • Previous reports have shown increased abundance of APP, S100B, and SYNJ1 in the frontal cortex and CSTB in the temporal cortex of people with DSAD.

    “These findings were consistent with previous reports of increased abundance of APP (amyloid precursor protein), S100B (S100 calcium-binding protein B), and SYNJ1 (synaptojanin-1) in the frontal cortex and CSTB (cystatin-B) in the temporal cortex of people with DSAD [45, 58, 71].”

    From Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome–Alzheimer’s disease (2025) · cites this paper as [45]

    The Introduction says the study measured SYNJ1 in frontal-cortex samples, and the Discussion reports higher SYNJ1 levels in DSAD than in DS alone. The sentence does not assign its three citations to individual proteins; judged as a whole, this paper does not establish increased frontal-cortex APP or S100B, or increased temporal-cortex CSTB, in DSAD. No page numbers are available in our copy. (LLM, conf=0.86)

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Research works printed but not linked: 1

  1. [1]Lejeune J Gautier M Turpin R Etude des chromosomes somatiques de neuf enfants mongoliens Comptes Rendus Hebdomadaires des Seances de L'Academie des Sciences 1959 248 1721 2 13639368

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Authors
Martin, S. B., Dowling, A. L. S., Lianekhammy, J., Lott, I. T., Doran, E., Murphy, M. P., Beckett, T. L., Schmitt, F. A., & Head, E.
Affiliations
University of Kentucky (US)
Corresponding author
Head, Elizabeth
Venue
Journal of Alzheimer's Disease
Published
2014-09-16
Volume
42
Issue
3
Pages
767-775
ISSN
  • 1387-2877 (ISSN-L)
  • 1875-8908
OpenAlex
W1519716327
Cited by
64
References
53
Citations by year
2026: 2 · 2025: 10 · 2024: 6 · 2023: 2 · 2022: 7 · 2021: 6 · 2020: 5 · 2019: 6 · 2018: 2 · 2017: 5 · 2016: 4 · 2015: 6 · 2014: 3
FWCI
5.97
Type
journal article
Language
en
Open access
Locations
  • Journal of Alzheimer s Disease (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • eScholarship (California Digital Library) (submittedVersion, cc-by)
Funders
  • National Institutes of Health
  • National Institute on Aging (P50 AG 16573, P30AG028383, P01AG005119, P50AG016573, P30 AG28383, R01AG16573)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD065160, HHSN275200900011C, R01HD064993, N01-HD-90011)
Topics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Keywords
Down syndrome, Alzheimer's disease
MeSH terms
Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Alzheimer Disease, Autopsy, Brain, Child, Child, Preschool, Down Syndrome, Female, Humans, Infant, Male, Middle Aged, Nerve Tissue Proteins, Phosphoric Monoester Hydrolases, Amyloid beta-Peptides, Synaptophysin, Young Adult

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