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Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease
Martin SB, Dowling AL, Lianekhammy J, Lott IT, Doran E, Murphy MP, Beckett TL, Schmitt FA et al.. Journal of Alzheimer's disease : JAD, 2014-01-01
Topic: Brain proteins, microglia and lab models
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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APA 7th
Martin, S. B., Dowling, A. L., Lianekhammy, J., Lott, I. T., Doran, E., Murphy, M. P., et al. (2014). Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease. Journal of Alzheimer's disease : JAD. https://doi.org/10.3233/jad-140795
Vancouver
Martin SB, Dowling AL, Lianekhammy J, Lott IT, Doran E, Murphy MP, et al. Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease. Journal of Alzheimer's disease : JAD. 2014. doi:10.3233/jad-140795. PMID: 24927707.
BibTeX
@article{martin2014-24927707,
author = {Martin, S. B. and Dowling, A. L. and Lianekhammy, J. and Lott, I. T. and Doran, E. and Murphy, M. P. and Beckett, T. L. and Schmitt, F. A. and others},
title = {{Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease}},
journal = {Journal of Alzheimer's disease : JAD},
year = {2014},
doi = {10.3233/jad-140795},
pmid = {24927707},
url = {https://doi.org/10.3233/jad-140795}
}
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Key findings
- 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.
Why it matters
In autopsy brain tissue, this study found lower synaptophysin in Down syndrome with Alzheimer disease than in Down syndrome alone, and higher synaptojanin-1 in Down syndrome that rose further with Alzheimer pathology. These are tissue findings after death and do not show any treatment, cure or prevention.
Study details
- Evidence strengthLow
How this study scored 41/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of Alzheimer's disease : JAD) |
| Journal's citation record | 2 / 4 | Journal of Alzheimer s Disease: journal h-index 218 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2014 — within 20 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 64 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 4.6 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 3 / 6 | Cited 5.6× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 5 other studies in this library |
| Still being cited | 2 / 4 | Cited 17 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Elizabeth Head: h-index 98 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of California, Irvine: institution h-index 1,195 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 24927707) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 41 / 100 | — |
What each of these 20 components measures, and what this score is not →
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