Department of Biochemical Sciences, Sapienza University of Rome, Rome 00185, Italy.
Sanders-Brown Center on Aging and Department of Pharmacology and Nutritional Sciences, University of Kentucky, Lexington, KY 40536, USA.
Free Radic Biol Med. 2018 Jan;114:94-101. doi: 10.1016/j.freeradbiomed.2017.08.009. Epub 2017 Aug 12.
The mammalian target of rapamycin (mTOR) is a serine/threonine protein kinase involved in the regulation of protein synthesis and degradation, longevity and cytoskeletal formation. The mTOR pathway represents a key growth and survival pathway involved in several diseases such as cancer, obesity, cardiovascular disease and neurodegenerative diseases. Numerous studies linked the alterations of mTOR pathway to age-dependent cognitive decline, pathogenesis of Alzheimer disease (AD) and AD-like dementia in Down syndrome (DS). DS is the most frequent chromosomal abnormality that causes intellectual disability. The neuropathology of AD in DS is complex and involves impaired mitochondrial function, defects in neurogenesis, increased oxidative stress, altered proteostasis and autophagy networks as a result of triplication of chromosome 21(chr 21). The chr21 gene products are considered a principal neuropathogenic moiety in DS. Several genes involved respectively in the formation of senile plaques and neurofibrillary tangles (NFT), two main pathological hallmarks of AD, are mapped on chr21. Further, in subjects with DS the activation of mTOR signaling contributes to Aβ generation and the formation of NFT. This review discusses recent research highlighting the complex role of mTOR associated with the presence of two hallmarks of AD pathology, senile plaques (composed mostly of fibrillar Aß peptides), and NFT (composed mostly of hyperphosphorylated tau protein). Oxidative stress, associated with chr21-related Aβ and mitochondrial alterations, may significantly contribute to this linkage of mTOR to AD-like neuropathology in DS.
哺乳动物雷帕霉素靶蛋白(mTOR)是一种丝氨酸/苏氨酸蛋白激酶,参与蛋白质合成和降解、长寿和细胞骨架形成的调节。mTOR 途径代表了一个关键的生长和存活途径,涉及多种疾病,如癌症、肥胖、心血管疾病和神经退行性疾病。许多研究将 mTOR 途径的改变与年龄相关的认知能力下降、阿尔茨海默病(AD)的发病机制以及唐氏综合征(DS)中的 AD 样痴呆联系起来。DS 是导致智力残疾最常见的染色体异常。AD 在 DS 中的神经病理学是复杂的,涉及到线粒体功能受损、神经发生缺陷、氧化应激增加、蛋白质稳态和自噬网络改变,这是由于 21 号染色体(chr21)的三倍体。chr21 基因产物被认为是 DS 中主要的神经致病部分。几个分别参与老年斑和神经原纤维缠结(NFT)形成的基因,AD 的两个主要病理学特征,映射在 chr21 上。此外,在 DS 患者中,mTOR 信号的激活有助于 Aβ的产生和 NFT 的形成。这篇综述讨论了最近的研究,强调了 mTOR 与 AD 病理学的两个标志(老年斑(主要由纤维状 Aβ肽组成)和 NFT(主要由过度磷酸化的 tau 蛋白组成))之间存在的复杂关系。与 chr21 相关的 Aβ和线粒体改变相关的氧化应激可能显著促进了 mTOR 与 DS 中 AD 样神经病理学的这种联系。