ArticleBlood advances2017
Red blood cell metabolism in Down syndrome: hints on metabolic derangements in aging.
Article in Blood advances, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Meta-analysis of metabolites involved in bioenergetic pathways reveals a pseudohypoxic state in Down syndrome.Molecular medicine (Cambridge, Mass.) · 2020Pooled it
- Metabolomic Profiles in Down Syndrome: A Scoping Review of Convergent and Context-Dependent Patterns.Journal of intellectual disability research : JIDR · 2026Article
- Altered hepatic metabolism in Down syndrome.Cell reports · 2026Article
- High-Throughput Metabolomics in Transfusion Medicine.Methods in molecular biology (Clifton, N.J.) · 2026Article
- TcMAC21 mouse model recapitulates abnormal vascular physiology observed in humans with Down syndrome.Physiological reports · 2025Article
- Metabolic, Hematological, and Functional Health in Adults with Down Syndrome and Significance of Parental Health Literacy: A Cross-Sectional Study.Healthcare (Basel, Switzerland) · 2025Article
- Red blood cell metabolism: a window on systems health towards clinical metabolomics.Current opinion in hematology · 2025Review
- Article
- Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency.Antioxidants (Basel, Switzerland) · 2023Article
- Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition.Science advances · 2023Article
- Red Blood Cell Metabolism In Vivo and In Vitro.Metabolites · 2023Review
- Red Blood Cell Omics and Machine Learning in Transfusion Medicine: Singularity Is Near.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2023Review
- Characterization of mitochondrial and metabolic alterations induced by trisomy 21 during neural differentiation.Free radical biology & medicine · 2023Article
- Biochemical Discrimination of the Down Syndrome-Related Metabolic and Oxidative/Nitrosative Stress Alterations from the Physiologic Age-Related Changes through the Targeted Metabolomic Analysis of Serum.Antioxidants (Basel, Switzerland) · 2022Article
- Irradiation Causes Alterations of Polyamine, Purine, and Sulfur Metabolism in Red Blood Cells and Multiple Organs.Journal of proteome research · 2022Article
- Protein-L-isoaspartate O-methyltransferase is required forHaematologica · 2021Article
- Trisomy 21 results in modest impacts on mitochondrial function and central carbon metabolism.Free radical biology & medicine · 2021Article
- Metabolic Changes in Maternal and Cord Blood in One Case of Pregnancy-Associated Breast Cancer Seen by Fluorescence Lifetime Imaging Microscopy.Diagnostics (Basel, Switzerland) · 2021Article
- Evaluation of biochemical and hematological parameters in adults with Down syndrome.Scientific reports · 2020Article
- COVID-19 infection alters kynurenine and fatty acid metabolism, correlating with IL-6 levels and renal status.JCI insight · 2020Observational
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
Red blood cells (RBCs) are the most abundant cell in the human body. During their ∼120-day life span in the circulatory system, RBCs release oxygen to all human tissues while being exposed to tissue metabolic activity. Owing to the relative simplicity of their intrinsic metabolism and the abundance of metabolite transporters in RBC membranes, the metabolism of mature erythrocytes indirectly mirrors systemic metabolic homeostasis and its alterations as a function of physiological factors, such as aging. Trisomy 21 (T21), the etiological factor of Down syndrome (DS), has been shown to cause chronic autoinflammation, promoting alterations in RBC life span, size (macrocytosis), and redox homeostasis. Here, we provide the first mass spectrometry-based relative and absolute quantitative metabolomic description of human RBCs from volunteer disomic and trisomic donors (n = 97). The results indicate a widespread deregulation of T21 RBC metabolism, including significant intracellular accumulation of lactate, amino acids (except methionine), purine catabolites, glutathione metabolites, carboxylic acids, bile acids (especially conjugated ones), and acyl-conjugated carnitines. These changes may underlie some of the well-established comorbidities in DS. Finally, we identify sex- and/or T21-specific metabolic signatures of aging.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.