Sam & Ann Barshop Institute for Longevity and Aging Studies, Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, Department of Cell Systems and Anatomy, University of Texas Health San Antonio, San Antonio, TX, United States.
Sam & Ann Barshop Institute for Longevity and Aging Studies, Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, Department of Cell Systems and Anatomy, University of Texas Health San Antonio, San Antonio, TX, United States.
Curr Opin Neurobiol. 2020 Apr;61:65-72. doi: 10.1016/j.conb.2020.01.012. Epub 2020 Feb 21.
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.
人类基因组的近一半（45%）由转座元件或“跳跃基因”组成。自芭芭拉·麦克林托克（Barbara McClintock）于 1950 年首次发现转座元件以来，我们逐渐认识到，转座元件的移动是进化的主要驱动力，转座元件在生殖细胞和体细胞中均具有活性，并且转座元件的失调与许多人类疾病有因果关系。在本综述中，我们重点介绍了最近研究转座元件在成年大脑中的激活以及在神经退行性变背景下的激活的研究。这些研究共同增进了我们对成年大脑中完整逆转录转座的频率以及在神经退行性疾病患者的大脑和体液中存在转座元件衍生 RNA 和蛋白质的理解。我们讨论了治疗机会，并推测了转座元件的激活在神经退行性疾病领域当前热门话题方面的更大意义。
