Neuropsychiatric Disease and Treatment (Dec 2021)
The Role of PAX2 in Neurodevelopment and Disease
Abstract
Na Lv,1 Ying Wang,2 Min Zhao,2 Lina Dong,3 Hongen Wei2 1Department of Physiology, Basic Medical College, Shanxi Medical University, Taiyuan, People’s Republic of China; 2Department of Neurology, Shanxi Provincial People’s Hospital, The Fifth Clinical Medical College of Shanxi Medical University, Taiyuan, People’s Republic of China; 3Central Laboratory, Shanxi Provincial People’s Hospital, The Fifth Clinical Medical College of Shanxi Medical University, Taiyuan, People’s Republic of ChinaCorrespondence: Hongen WeiDepartment of Neurology, Shanxi Provincial People’s Hospital, The Fifth Clinical Medical College of Shanxi Medical University, 29 Shuangta Road, Taiyuan, 030012, People’s Republic of ChinaTel +86 351 4960173Fax +86 351 4961994Email [email protected]: In developmental biology, transcription factors are involved in regulating the process of neural development, controlling the differentiation of nerve cells, and affecting the normal functioning of neural circuits. Transcription factors regulate the expression of multiple genes at the same time and have become a key gene category that is recognized to be disrupted in neurodevelopmental disorders such as autism spectrum disorders. This paper briefly introduces the expression and role of PAX2 in neurodevelopment and discusses the neurodevelopmental disorders associated with Pax2 mutations and its possible mechanism. Firstly, mutations in the human Pax2 gene are associated with abnormalities in multiple systems which can result in neurodevelopmental disorders such as intellectual disability, epilepsy and autism spectrum disorders. Secondly, the structure of Pax2 gene and PAX2 protein, as well as the function of Pax2 gene in neural development, was discussed. Finally, a diagram of the PAX2 protein regulatory network was made and a possible molecular mechanism of Pax2 mutations leading to neurodevelopmental disorders from the perspectives of developmental process and protein function was proposed.Keywords: PAX2, neural development, disorders, mechanism
