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唐氏综合征儿童的一碳代谢途径与认知技能。

One-carbon pathway and cognitive skills in children with Down syndrome.

机构信息

Department of Experimental, Diagnostic and Specialty Medicine, (DIMES), Unit of Histology, Embryology and Applied Biology, University of Bologna, Via Belmeloro 8, 40126, Bologna, BO, Italy.

Department of Developmental Psychology and Socialisation, University of Padova, Via Venezia 8, 35131, Padua, PD, Italy.

出版信息

Sci Rep. 2021 Feb 19;11(1):4225. doi: 10.1038/s41598-021-83379-7.

DOI:10.1038/s41598-021-83379-7
PMID:33608632
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7895965/
Abstract

This 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.

摘要

本研究旨在探讨代谢物水平在唐氏综合征（Down syndrome，DS）患者智力障碍中的作用。我们分析了 147 例 DS 患者的同型半胱氨酸、叶酸、维生素 B12、尿酸（uric acid，UA）、肌酐水平和 MTHFR C677T 基因型。对于 77 例患者，我们分析了代谢物水平与认知测试的相关性。28 例患者（3.08-6.16 岁）接受了 Griffiths-III 测试，49 例患者（7.08-16.08 岁）接受了 WPPSI-III 测试。我们发现一些代谢物水平之间以及同型半胱氨酸水平与 MTHFR C677T 基因型之间存在显著相关性。此外，同型半胱氨酸、UA 和肌酐水平随年龄增长而升高。在年龄较小的患者中，我们未发现代谢物与认知测试评分之间存在任何相关性。当同型半胱氨酸水平≥7.35µmol/L 时，与 WPPSI-III 子测试评分呈统计学显著相关，仅在较高阈值时与非言语区域评分相关。当维生素 B12 水平<442pg/mL 时，与 WPPSI-III 所有子测试评分均相关。本研究的意义在于检测到与认知评分更好或更差相关的特定代谢物阈值，提示维生素 B12 和同型半胱氨酸可能在 DS 儿童认知发育中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b67/7895965/d01b07870c1c/41598_2021_83379_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b67/7895965/1c44472997ea/41598_2021_83379_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b67/7895965/197a93ec3d20/41598_2021_83379_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b67/7895965/afa2ac95dac3/41598_2021_83379_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b67/7895965/acd3bd4378b8/41598_2021_83379_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b67/7895965/d01b07870c1c/41598_2021_83379_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b67/7895965/1c44472997ea/41598_2021_83379_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b67/7895965/197a93ec3d20/41598_2021_83379_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b67/7895965/afa2ac95dac3/41598_2021_83379_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b67/7895965/acd3bd4378b8/41598_2021_83379_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b67/7895965/d01b07870c1c/41598_2021_83379_Fig5_HTML.jpg

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