La Cognata Valentina, D'Agata Velia, Cavalcanti Francesca, Cavallaro Sebastiano
Institute of Neurological Sciences, Italian National Research Council, Via Paolo Gaifami 18, 95125, Catania, Sicily, Italy.
Department of Biomedical and Biotechnological Sciences, Section of Human Anatomy and Histology, University of Catania, Catania, Italy.
Neurogenetics. 2015 Oct;16(4):245-63. doi: 10.1007/s10048-015-0449-x. Epub 2015 May 16.
Alternative splicing is a crucial mechanism of gene expression regulation that enormously increases the coding potential of our genome and represents an intermediate step between messenger RNA (mRNA) transcription and protein posttranslational modifications. Alternative splicing occupies a central position in the development and functions of the nervous system. Therefore, its deregulation frequently leads to several neurological human disorders. In the present review, we provide an updated overview on the impact of alternative splicing in Parkinson's disease (PD), the second most common neurodegenerative disorder worldwide. We will describe the alternative splicing of major PD-linked genes by collecting the current evidences about this intricate and not carefully explored aspect. Assessing the role of this mechanism on PD pathobiology may represent a central step toward an improved understanding of this complex disease.
可变剪接是基因表达调控的关键机制，它极大地增加了我们基因组的编码潜力，是信使核糖核酸（mRNA）转录和蛋白质翻译后修饰之间的中间步骤。可变剪接在神经系统的发育和功能中占据核心地位。因此，其失调常常导致多种人类神经疾病。在本综述中，我们提供了关于可变剪接对帕金森病（PD）影响的最新概述，帕金森病是全球第二常见的神经退行性疾病。我们将通过收集有关这一复杂且未被充分探索方面的现有证据，来描述主要帕金森病相关基因的可变剪接。评估这一机制在帕金森病病理生物学中的作用可能是更好地理解这种复杂疾病的关键一步。
