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

Xingxuan Wu; Zheng Li; Zhao-Qi Wang; Xingzhi Xu

doi:10.3389/fnins.2023.1242448

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

Front Neurosci. 2023 Aug 3:17:1242448. doi: 10.3389/fnins.2023.1242448. eCollection 2023.

Authors

Xingxuan Wu^{1

2

3}, Zheng Li¹, Zhao-Qi Wang^{2

3}, Xingzhi Xu^{1

2}

Affiliations

¹ Guangdong Key Laboratory for Genome Stability and Disease Prevention and Marshall Laboratory of Biomedical Engineering, Shenzhen University Medical School, Shenzhen, Guangdong, China.
² Shenzhen University-Friedrich Schiller Universität Jena Joint PhD Program in Biomedical Sciences, Shenzhen University School of Medicine, Shenzhen, Guangdong, China.
³ Laboratory of Genome Stability, Leibniz Institute on Aging-Fritz Lipmann Institute, Jena, Germany.

Abstract

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 (MCPHs) have been identified. Among these MCPHs, MCPH5, 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.

Keywords: ASPM; MCPH5; cancer; microcephaly; neurogenesis; small brain.

Publication types

Review