Alldred Melissa J, Martini Alessandra C, Patterson David, Hendrix James, Granholm Ann-Charlotte
Nathan Kline Institute, NYU Grossman Medical School, 140 Old Orangeburg Rd, Orangeburg, NY 10962, USA.
Department of Pathology and Lab. Medicine, University of California Irvine, Irvine, CA 92697, USA.
J Clin Med. 2021 Oct 13;10(20):4687. doi: 10.3390/jcm10204687.
Down syndrome (DS) is a form of accelerated aging, and people with DS are highly prone to aging-related conditions that include vascular and neurological disorders. Due to the overexpression of several genes on Chromosome 21, for example genes encoding amyloid precursor protein (), superoxide dismutase (), and some of the interferon receptors, those with DS exhibit significant accumulation of amyloid, phospho-tau, oxidative stress, neuronal loss, and neuroinflammation in the brain as they age. In this review, we will summarize the major strides in this research field that have been made in the last few decades, as well as discuss where we are now, and which research areas are considered essential for the field in the future. We examine the scientific history of DS bridging these milestones in research to current efforts in the field. We extrapolate on comorbidities associated with this phenotype and highlight clinical networks in the USA and Europe pursuing clinical research, concluding with funding efforts and recent recommendations to the NIH regarding DS research.
唐氏综合征（DS）是一种加速衰老的形式，患有DS的人极易出现与衰老相关的病症，包括血管和神经疾病。由于21号染色体上几个基因的过度表达，例如编码淀粉样前体蛋白（）、超氧化物歧化酶（）和一些干扰素受体的基因，随着年龄的增长，患有DS的人在大脑中会出现淀粉样蛋白、磷酸化tau蛋白的显著积累、氧化应激、神经元丧失和神经炎症。在这篇综述中，我们将总结过去几十年在该研究领域取得的主要进展，讨论我们目前所处的位置，以及哪些研究领域被认为对该领域的未来至关重要。我们审视了DS的科学研究历史，将这些里程碑式的研究与该领域当前的努力联系起来。我们推断与这种表型相关的合并症，并强调美国和欧洲开展临床研究的临床网络，最后介绍资助情况以及最近向美国国立卫生研究院（NIH）提出的关于DS研究的建议。
