Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism
Open accessAbstract
Down syndrome (DS) is caused by the presence of a supernumerary copy of the human chromosome 21 (Hsa21) and is the most frequent genetic cause of intellectual disability (ID). Key traits of DS are the distinctive facies and cognitive impairment. We conducted for the first time an analysis of the Nuclear Magnetic Resonance (NMR)-detectable part of the metabolome in plasma and urine samples, studying 67 subjects with DS and 29 normal subjects as controls selected among DS siblings. Multivariate analysis of the NMR metabolomic profiles showed a clear discrimination (up to of 80% accuracy) between the DS and the control groups. The univariate analysis of plasma and urine revealed a significant alteration for some interesting metabolites. Remarkably, most of the altered concentrations were consistent with the 3:2 gene dosage model, suggesting effects caused by the presence of three copies of Hsa21 rather than two: DS/normal ratio in plasma was 1.23 (pyruvate), 1.47 (succinate), 1.39 (fumarate), 1.33 (lactate), 1.4 (formate). Several significantly altered metabolites are produced at the beginning or during the Krebs cycle. Accounting for sex, age and fasting state did not significantly affect the main result of both multivariate and univariate analysis.
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“Although there are no studies directly assessing the metabolome of cells in the developing brain of individuals with DS, plasma, serum and urine samples have revealed a significantly different metabolomic signature in DS, which is probably caused by mitochondrial dysfunction 221–223 .”
- Authors
- Caracausi, M., Ghini, V., Locatelli, C., Mericio, M., Piovesan, A., Antonaros, F., Pelleri, M. C., Vitale, L., Vacca, R. A., Bedetti, F., Mimmi, M. C., Luchinat, C., Turano, P., Strippoli, P., & Cocchi, G.
- Affiliations
- University of Bologna (IT)
- Consorzio Interuniversitario Risonanze Magnetiche di Metallo Proteine (IT)
- IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
- Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies (IT)
- University of Udine (IT)
- University of Florence (IT)
- Corresponding author
- Strippoli, Pierluigi
- ORCID
- Venue
- Scientific Reports
- Published
- 2018-02-14
- Volume
- 8
- Issue
- 1
- Pages
- 2977-2977
- ISSN
- 2045-2322 (ISSN-L)
- PMC
- PMC5813015
- OpenAlex
- W2802048215
- Cited by
- 84
- References
- 82
- Citations by year
- 2026: 3 · 2025: 7 · 2024: 10 · 2023: 6 · 2022: 13 · 2021: 13 · 2020: 14 · 2019: 13 · 2018: 5
- FWCI
- 10.71
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Scientific Reports (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Florence Research (University of Florence) (submittedVersion, other-oa)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolomics and Mass Spectrometry Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- Down syndrome, metabolomics, plasma metabolites, urinary metabolites, mitochondrial metabolism, Krebs cycle metabolites, pyruvate, succinic acid, fumarate, lactate, formate, gene dosage, intellectual disability, NMR metabolomics, diagnostic biomarkers
- MeSH terms
- Adolescent, Adult, Blood Proteins, Child, Child, Preschool, Chromosomes, Human, Pair 21, Citric Acid Cycle, Down Syndrome, Female, Humans, Male, Mitochondria, Magnetic Resonance Spectroscopy, Urine, Cohort Studies, Multivariate Analysis, Gene Dosage, Siblings, Metabolome, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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