AUTHOR=Wu Xingxuan , Li Zheng , Wang Zhao-Qi , Xu Xingzhi 

TITLE=The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM

JOURNAL=Frontiers in Neuroscience

VOLUME=17

YEAR=2023

URL=https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2023.1242448

DOI=10.3389/fnins.2023.1242448

ISSN=1662-453X

ABSTRACT=<p>Primary microcephaly (MCPH), is a neurological disorder characterized by small brain size that results in numerous developmental problems, including intellectual disability, motor and speech delays, and seizures. Hitherto, over 30 MCPH causing genes (<italic>MCPHs</italic>) have been identified. Among these <italic>MCPHs</italic>, <italic>MCPH5</italic>, which encodes abnormal spindle-like microcephaly-associated protein (ASPM), is the most frequently mutated gene. ASPM regulates mitotic events, cell proliferation, replication stress response, DNA repair, and tumorigenesis. Moreover, using a data mining approach, we have confirmed that high levels of expression of ASPM correlate with poor prognosis in several types of tumors. Here, we summarize the neurological and non-neurological functions of ASPM and provide insight into its implications for the diagnosis and treatment of MCPH and cancer.</p>