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Carbohydrate handling enzymes in fetal Down syndrome brain
Kitzmueller E, Greber S, Fountoulakis M, Lubec G.. Journal of neural transmission. Supplementum, 2001-01-01
Topic: Brain proteins, microglia and lab models
Impaired glucose metabolism in adult Down Syndrome (DS) has been well-documented in vivo and information on the underlying biochemical defect i.e. aberrant glucose handling enzymes is already available. Nothing is known on carbohydrate handling, however, in early life of DS patients, when no secondary phenomena as e.g. Alzheimer-like neuropathology occur in the brain yet. We therefore determined a series of key enzymes of carbohydrate metabolism in fetal control and DS brain during the early second trimenon. We used two-dimensional electrophoresis with subsequent MALDI characterization and specific software for quantification of protein spots. We observed comparable levels of phosphoglycerate mutase, phosphoglycerate kinase 1; fructose-biphosphate aldolase A, fructose bisphosphate aldolase C; ribose-phosphate pyrophosphokinase 1; D-phosphoglycerate dehydrogenase, 6-phosphogluconolactonase; aflatoxin B1 aldehyde reductase 1, aldose reductase; inosine-5'-monophosphate dehydrogenase 2; galactokinase, in brain of fetal controls and DS. We conclude that our biochemical findings point to the fact that DS patients start early life with unchanged glucose handling, pentose phosphate shunt, glycolysis, sugar aldehyde, guanine nucleotide- and ribonucleoside formation and galactose metabolism.
Key findings
- We observed comparable levels of phosphoglycerate mutase, phosphoglycerate kinase 1; fructose-biphosphate aldolase A, fructose bisphosphate aldolase C; ribose-phosphate pyrophosphokinase 1; D-phosphoglycerate dehydrogenase, 6-phosphogluconolactonase; aflatoxin B1 aldehyde reductase 1, aldose reductase; inosine-5'-monophosphate dehydrogenase 2; galactokinase, in brain of fetal controls and DS.
- We conclude that our biochemical findings point to the fact that DS patients start early life with unchanged glucose handling, pentose phosphate shunt, glycolysis, sugar aldehyde, guanine nucleotide- and ribonucleoside formation and galactose metabolism.
Why it matters
In fetal Down syndrome brain tissue, levels of several carbohydrate-handling enzymes were comparable to controls. This laboratory finding concerns early development and provides no basis for treating, curing or preventing Alzheimer's disease.
Study details
- Evidence strengthLow
How this study scored 28/100
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. We have no data on journal's citation record, so that was left out: it earned 27 of the 96 points we could judge it on, which is 28 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of neural transmission. Supplementum) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 2001 — older than 20 years, still counted |
| 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 | 1 / 7 | Cited 4 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.1 citations a year over 27 year(s) since 2001 |
| Impact for its field and year | 2 / 6 | Cited 2.7× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 0 / 4 | Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 1 / 4 | Last-listed author Michael Fountoulakis: h-index 19 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Vienna: institution h-index 851 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 11771744) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 27 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 27 of the 96 points we could judge it on is 28 out of 100. |
| Total | 28 / 100 | — |
What each of these 20 components measures, and what this score is not →
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
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.
APA 7th
Kitzmueller, E., Greber, S., Fountoulakis, M., & Lubec, G. (2001). Carbohydrate handling enzymes in fetal Down syndrome brain. Journal of neural transmission. Supplementum. https://doi.org/10.1007/978-3-7091-6262-0_16
Vancouver
Kitzmueller E, Greber S, Fountoulakis M, Lubec G. Carbohydrate handling enzymes in fetal Down syndrome brain. Journal of neural transmission. Supplementum. 2001. doi:10.1007/978-3-7091-6262-0_16. PMID: 11771744.
BibTeX
@article{kitzmueller2001-11771744,
author = {Kitzmueller, E. and Greber, S. and Fountoulakis, M. and Lubec, G.},
title = {{Carbohydrate handling enzymes in fetal Down syndrome brain}},
journal = {Journal of neural transmission. Supplementum},
year = {2001},
doi = {10.1007/978-3-7091-6262-0_16},
pmid = {11771744},
url = {https://doi.org/10.1007/978-3-7091-6262-0_16}
}
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