Rondal Jean A
University of Liège, Cognitive Sciences, Building 32, Sart Tilman, Liège 4000, Belgium.
AIMS Neurosci. 2020 Jun 22;7(2):168-193. doi: 10.3934/Neuroscience.2020012. eCollection 2020.
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.
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。