Neuronal autophagy and neurodevelopmental disorders

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.

Keywords: autophagy; homeostasis; mTOR; neurodevelopment; neurodevelopmental disorders.

Publication types

  • Review