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分子 EPISTOP，一项针对婴儿期至两岁的结节性硬化症婴儿血液的综合多组学分析。

Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.

机构信息

Proteome Factory AG, Berlin, Germany.

Transition Technologies Science, Warsaw, Poland.

出版信息

Nat Commun. 2023 Nov 23;14(1):7664. doi: 10.1038/s41467-023-42855-6.

DOI:10.1038/s41467-023-42855-6
PMID:37996417
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10667269/
Abstract

We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial of early intervention with vigabatrin for pre-symptomatic epilepsy treatment in Tuberous Sclerosis Complex (TSC), in which 93 infants with TSC were followed from birth to age 2 years, seeking biomarkers of epilepsy development. Vigabatrin had profound effects on many metabolites, increasing serum deoxycytidine monophosphate (dCMP) levels 52-fold. Most serum proteins and metabolites, and blood RNA species showed significant change with age. Thirty-nine proteins, metabolites, and genes showed significant differences between age-matched control and TSC infants. Six also showed a progressive difference in expression between control, TSC without epilepsy, and TSC with epilepsy groups. A multivariate approach using enrollment samples identified multiple 3-variable predictors of epilepsy, with the best having a positive predictive value of 0.987. This rich dataset will enable further discovery and analysis of developmental effects, and associations with seizure development in TSC.

摘要

我们对 EPISTOP 前瞻性临床试验进行了全面的多组学分析，该试验研究了氨己烯酸对结节性硬化症（TSC）患者进行症状前癫痫治疗的早期干预作用。93 名 TSC 婴儿从出生到 2 岁接受了随访，以寻找癫痫发展的生物标志物。氨己烯酸对许多代谢物有深远影响，使血清脱氧胞苷单磷酸（dCMP）水平增加了 52 倍。大多数血清蛋白和代谢物以及血液 RNA 种类随年龄变化显著。39 种蛋白质、代谢物和基因在年龄匹配的对照组和 TSC 婴儿之间存在显著差异。其中 6 种在对照组、无癫痫 TSC 组和癫痫 TSC 组之间的表达也存在逐渐差异。使用入组样本的多元方法确定了多个 3 变量癫痫预测因子，其中最佳预测因子的阳性预测值为 0.987。这个丰富的数据集将能够进一步发现和分析发育效应，并与 TSC 中的癫痫发作发展相关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb42/10667269/b0c35c07f872/41467_2023_42855_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb42/10667269/774d43600628/41467_2023_42855_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb42/10667269/9baf83c9a916/41467_2023_42855_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb42/10667269/32fe3ae93910/41467_2023_42855_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb42/10667269/2461abeebe45/41467_2023_42855_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb42/10667269/b0c35c07f872/41467_2023_42855_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb42/10667269/774d43600628/41467_2023_42855_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb42/10667269/9baf83c9a916/41467_2023_42855_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb42/10667269/32fe3ae93910/41467_2023_42855_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb42/10667269/2461abeebe45/41467_2023_42855_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb42/10667269/b0c35c07f872/41467_2023_42855_Fig5_HTML.jpg

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