Author:
Antonaros Francesca,Lanfranchi Silvia,Locatelli Chiara,Martelli Anna,Olivucci Giulia,Cicchini Elena,Carosi Diatricch Ludovica,Mannini Elisa,Vione Beatrice,Feliciello Agnese,Ramacieri Giuseppe,Onnivello Sara,Vianello Renzo,Vitale Lorenza,Pelleri Maria Chiara,Strippoli Pierluigi,Cocchi Guido,Pulina Francesca,Piovesan Allison,Caracausi Maria
Abstract
AbstractThis work investigates the role of metabolite levels in the intellectual impairment of subjects with Down syndrome (DS). Homocysteine, folate, vitamin B12, uric acid (UA), creatinine levels and MTHFR C677T genotype were analyzed in 147 subjects with DS. For 77 subjects, metabolite levels were correlated with cognitive tests. Griffiths-III test was administered to 28 subjects (3.08–6.16 years) and WPPSI-III test was administered to 49 subjects (7.08–16.08 years). Significant correlations were found among some metabolite levels and between homocysteine levels and MTHFR C677T genotype. Moreover, homocysteine, UA and creatinine levels resulted increased with age. We did not find any correlation between metabolites and cognitive test score in the younger group. Homocysteine showed statistically significant correlation with WPPSI-III subtest scores when its level is ≥ 7.35 µmol/L, remaining correlated in higher thresholds only for non-verbal area scores. Vitamin B12 showed correlations with all WPPSI-III subtest scores when its level is < 442 pg/mL. The relevance of the present findings is the detection of a specific metabolite threshold related with a better or worse cognitive score, suggesting that vitamin B12 and homocysteine may have a role in cognitive development in children with DS.
Publisher
Springer Science and Business Media LLC
Reference46 articles.
1. Lejeune, J., Gauthier, M. & Turpin, R. Human chromosomes in tissue cultures. Comptes rendus hebdomadaires des seances de l’Academie des sciences 248, 602–603 (1959).
2. Pelleri, M. C. et al. Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21. Mol. Genet. Genomic Med. 7, e797 (2019).
3. Pelleri, M. C. et al. Integrated quantitative transcriptome maps of human trisomy 21 tissues and cells. Front. Genet. 9, 125 (2018).
4. Strippoli, P. et al. State of the Art of Research on Down Syndrome Vol. 56, 1–39 (Academic Press, Cambridge, 2019).
5. Caracausi, M. et al. Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism. Sci. Rep. 8, 2977 (2018).
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