Nearly half (45%) of the human genome is composed of transposable elements, or 'jumping genes'. Since Barbara McClintock's original discovery of transposable elements in 1950, we have come to appreciate that transposable element mobilization is a major driver of evolution that transposons are active in the germline and the soma, and that transposable element dysregulation is causally associated with many human disorders. In the present review, we highlight recent studies investigating transposable element activation in the adult brain and in the context of neurodegeneration. Collectively, these studies contribute to a greater understanding of the frequency of complete retrotransposition in the adult brain as well as the presence of transposable element-derived RNA and protein in brain and fluids of patients with neurodegenerative disorders. We discuss therapeutic opportunities and speculate on the larger implications of transposable element activation in regard to current hot topics in the field of neurodegeneration.

中文翻译：

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唤醒黑暗面：神经退行性疾病中的反转录转座子激活。

近一半（45%）的人类基因组由转座因子或“跳跃基因”组成。自从 Barbara McClintock 在 1950 年首次发现转座子元件以来，我们开始认识到转座子元件的动员是进化的主要驱动力，转座子在生殖系和体细胞中是活跃的，并且转座子元件失调与许多人类疾病有因果关系。在本综述中，我们重点介绍了研究成人大脑和神经退行性变情况下转座因子激活的最新研究。集体，这些研究有助于更好地了解成人大脑中完全逆转录转座的频率，以及神经退行性疾病患者的大脑和体液中是否存在转座因子衍生的 RNA 和蛋白质。我们讨论了治疗机会，并推测转座因子激活对神经退行性变领域当前热门话题的更大影响。