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Protein expression of BACE1, BACE2 and APP in Down syndrome brains
Cheon MS, Dierssen M, Kim SH, Lubec G.. Amino acids, 2007-12-29
Topic: Brain proteins, microglia and lab models
Plain-language summary
Down syndrome (DS) is the most common human chromosomal abnormality caused by an extra copy of chromosome 21. The phenotype of DS is thought to result from overexpression of a gene or genes located on the triplicated chromosome or chromosome region. Several reports have shown that the neuropathology of DS comprises developmental abnormalities and Alzheimer-like lesions such as senile plaques. A key component of senile plaques is amyloid beta-peptide which is generated from the amyloid precursor protein (APP) by sequential action of beta-secretases (BACE1 and BACE2) and gamma-secretase. While BACE1 maps to chromosome 11, APP and BACE2 are located on chromosome 21. To challenge the gene dosage effect and gain insight into the expressional relation between beta-secretases and APP in DS brain, we evaluated protein expression levels of BACE1, BACE2 and APP in fetal and adult DS brain compared to controls. In fetal brain, protein expression levels of BACE2 and APP were comparable between DS and controls. BACE1 was increased, but did not reach statistical significance. In adult brain, BACE1 and BACE2 were comparable between DS and controls, but APP was significantly increased. We conclude that APP overexpression seems to be absent during the development of DS brain up to 18-19 weeks of gestational age. However, its overexpression in adult DS brain could lead to disturbance of normal function of APP contributing to neurodegeneration. Comparable expression of BACE1 and BACE2 speaks against the hypothesis that increased beta-secretase results in (or even underlies) increased production of amyloidogenic A beta fragments. Furthermore, current data indicate that the DS phenotype cannot be fully explained by simple gene dosage effect.
What this study adds
Evidence grade: Low
In fetal Down syndrome brain, BACE2 and APP protein levels were comparable to controls and BACE1 was increased but not significantly, while in adult Down syndrome brain APP was significantly increased but BACE1 and BACE2 were comparable to controls. The authors conclude that APP overexpression appears absent during early development but is present in adult Down syndrome brain.
Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Cheon, M. S., Dierssen, M., Kim, S. H., & Lubec, G. (2008). Protein expression of BACE1, BACE2 and APP in Down syndrome brains. Amino acids. https://doi.org/10.1007/s00726-007-0618-9
Vancouver
Cheon MS, Dierssen M, Kim SH, Lubec G. Protein expression of BACE1, BACE2 and APP in Down syndrome brains. Amino acids. 2008. doi:10.1007/s00726-007-0618-9. PMID: 18163181.
BibTeX
@article{cheon2008-18163181,
author = {Cheon, M. S. and Dierssen, M. and Kim, S. H. and Lubec, G.},
title = {{Protein expression of BACE1, BACE2 and APP in Down syndrome brains}},
journal = {Amino acids},
year = {2008},
doi = {10.1007/s00726-007-0618-9},
pmid = {18163181},
url = {https://doi.org/10.1007/s00726-007-0618-9}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
Key findings
- The phenotype of DS is thought to result from overexpression of a gene or genes located on the triplicated chromosome or chromosome region.
- Several reports have shown that the neuropathology of DS comprises developmental abnormalities and Alzheimer-like lesions such as senile plaques.
- To challenge the gene dosage effect and gain insight into the expressional relation between beta-secretases and APP in DS brain, we evaluated protein expression levels of BACE1, BACE2 and APP in fetal and adult DS brain compared to controls.
- In adult brain, BACE1 and BACE2 were comparable between DS and controls, but APP was significantly increased.
- We conclude that APP overexpression seems to be absent during the development of DS brain up to 18-19 weeks of gestational age.
Why it matters
In fetal Down syndrome brain, BACE2 and APP protein levels were comparable to controls and BACE1 was increased but not significantly, while in adult Down syndrome brain APP was significantly increased but BACE1 and BACE2 were comparable to controls. The authors conclude that APP overexpression appears absent during early development but is present in adult Down syndrome brain.
Study details
- Evidence strengthLow
How this study scored 42/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Amino acids) |
| Journal's citation record | 2 / 4 | Amino Acids: journal h-index 166 (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 | 2008 — 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 92 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 4.6 citations a year over 20 year(s) since 2008 |
| Impact for its field and year | 3 / 6 | Cited 3.6× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 11 other studies in this library |
| Still being cited | 1 / 4 | Cited 9 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Gert Lübec: h-index 70 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Medical University of Vienna: institution h-index 818 (OpenAlex) |
| Multicenter collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 18163181) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 42 / 100 | — |
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