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Transposable Elements: A Common Feature of Neurodevelopmental and Neurodegenerative Disorders.
Trends in Genetics ( IF 13.6 ) Pub Date : 2020-06-01 , DOI: 10.1016/j.tig.2020.05.004
Marie E Jönsson 1 , Raquel Garza 1 , Pia A Johansson 1 , Johan Jakobsson 1
Affiliation  

The etiology of most neurological disorders is poorly understood and current treatments are largely ineffective. New ideas and concepts are therefore vitally important for future research in this area. This review explores the concept that dysregulation of transposable elements (TEs) contributes to the appearance and pathology of neurodevelopmental and neurodegenerative disorders. Despite TEs making up at least half of the human genome, they are vastly understudied in relation to brain disorders. However, recent advances in sequencing technologies and gene editing approaches are now starting to unravel the pathological role of TEs. Aberrant activation of TEs has been found in many neurological disorders; the resulting pathogenic effects, which include alterations of gene expression, neuroinflammation, and direct neurotoxicity, are starting to be resolved. An increased understanding of the relationship between TEs and pathological processes in the brain improves the potential for novel diagnostics and interventions for brain disorders.



中文翻译:

转座因子:神经发育和神经退行性疾病的共同特征。

对大多数神经系统疾病的病因了解甚少,目前的治疗方法大多无效。因此,新的思想和观念对于该领域的未来研究至关重要。这篇综述探讨了转座因子(TEs)失调有助于神经发育和神经退行性疾病的出现和病理学的概念。尽管TE构成了人类基因组的至少一半,但与脑部疾病有关的研究却大大不足。但是,测序技术和基因编辑方法的最新进展现已开始揭示TEs的病理作用。在许多神经系统疾病中都发现了TEs的异常激活。产生的致病作用,包括基因表达的改变,神经炎症和直接神经毒性,开始得到解决。对TE与大脑病理过程之间关系的进一步了解提高了针对脑部疾病进行新型诊断和干预的潜力。

更新日期:2020-07-13
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