Lee Kyung-Min, Hwang Su-Kyung, Lee Jin-A
Department of Anatomy, Graduate School of Medicine, Kyungpook National University, Daegu 700-422, Korea.
Exp Neurobiol. 2013 Sep;22(3):133-42. doi: 10.5607/en.2013.22.3.133. Epub 2013 Sep 30.
Neurodevelopmental disorders include a wide range of diseases such as autism spectrum disorders and mental retardation. Mutations in several genes that regulate neural development and synapse function have been identified in neurodevelopmental disorders. Interestingly, some affected genes and pathways in these diseases are associated with the autophagy pathway. Autophagy is a complex, bulky degradative process that involves the sequestration of cellular proteins, RNA, lipids, and cellular organelles into lysosomes. Despite recent progress in elucidating the genetics and molecular pathogenesis of these disorders, little is known about the pathogenic mechanisms and autophagy-related pathways involved in common neurodevelopmental disorders. Therefore, in this review, we focus on the current understanding of neuronal autophagy as well as recent findings on genetics and the roles of autophagy pathway in common neurodevelopmental disorders.
神经发育障碍包括多种疾病,如自闭症谱系障碍和智力迟钝。在神经发育障碍中已鉴定出多个调节神经发育和突触功能的基因突变。有趣的是,这些疾病中一些受影响的基因和信号通路与自噬信号通路相关。自噬是一个复杂、庞大的降解过程,涉及将细胞蛋白质、RNA、脂质和细胞器隔离到溶酶体中。尽管最近在阐明这些疾病的遗传学和分子发病机制方面取得了进展,但对于常见神经发育障碍所涉及的致病机制和自噬相关信号通路仍知之甚少。因此,在本综述中,我们重点关注目前对神经元自噬的理解以及自噬信号通路在常见神经发育障碍中的遗传学和作用的最新研究结果。