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唐氏综合征:有治愈的前景吗?

Down syndrome: A curative prospect?

作者信息

Rondal Jean A

机构信息

University of Liège, Cognitive Sciences, Building 32, Sart Tilman, Liège 4000, Belgium.

出版信息

AIMS Neurosci. 2020 Jun 22;7(2):168-193. doi: 10.3934/Neuroscience.2020012. eCollection 2020.

DOI:10.3934/Neuroscience.2020012
PMID:32607419
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7321764/
Abstract

Experimental work regarding corrective actions on chromosomes and genes, and control of gene products is yielding promising results. It opens the way to advances in dealing with the etiological aspects of Down syndrome and may lead to important changes in the life of individuals affected with this condition. A small number of molecules are being investigated in pharmacological research that may have positive effects on intellectual functioning. Studies of the pathological consequences of the amyloid cascade and the TAU pathology in the etiology of Alzheimer disease (AD), which is more frequent and occuring earlier in life in persons with Down syndrome (DS), are presented. The search for biological markers of AD and ways for constrasting its early manifestations are also discussed.

摘要

关于染色体和基因的纠正措施以及基因产物控制的实验工作正在产生有前景的结果。这为在唐氏综合征病因学方面取得进展开辟了道路,并且可能导致受这种疾病影响的个体生活发生重大变化。药理学研究正在对少数可能对智力功能有积极影响的分子进行研究。文中介绍了对淀粉样蛋白级联反应的病理后果以及唐氏综合征(DS)患者中更常见且发病更早的阿尔茨海默病(AD)病因中的TAU病理的研究。还讨论了寻找AD的生物标志物以及对抗其早期表现的方法。

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本文引用的文献

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Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.载脂蛋白 E3 基督城纯合子对常染色体显性阿尔茨海默病的抗性:一例报告。
Nat Med. 2019 Nov;25(11):1680-1683. doi: 10.1038/s41591-019-0611-3. Epub 2019 Nov 4.
2
Plasma amyloid and tau as dementia biomarkers in Down syndrome: Systematic review and meta-analyses.唐氏综合征患者血浆淀粉样蛋白和tau 作为痴呆生物标志物的系统评价和荟萃分析。
Dev Neurobiol. 2019 Jul;79(7):684-698. doi: 10.1002/dneu.22715. Epub 2019 Sep 11.
3
The Urinary Peptidome as a Noninvasive Biomarker Development Strategy for Prenatal Screening of Down's Syndrome.尿肽组学作为唐氏综合征产前筛查的无创生物标志物研发策略。
OMICS. 2019 Sep;23(9):439-447. doi: 10.1089/omi.2019.0098. Epub 2019 Aug 5.
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Elimination of protein aggregates prevents premature senescence in human trisomy 21 fibroblasts.消除蛋白质聚集体可防止人类 21 三体综合征成纤维细胞过早衰老。
PLoS One. 2019 Jul 29;14(7):e0219592. doi: 10.1371/journal.pone.0219592. eCollection 2019.
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Usage of and attitudes about green tea extract and Epigallocathechin-3-gallate (EGCG) as a therapy in individuals with Down syndrome.在唐氏综合征患者中,作为一种疗法,绿茶提取物和表没食子儿茶素没食子酸酯(EGCG)的使用情况和态度。
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