Wu Xingxuan, Li Zheng, Wang Zhao-Qi, Xu Xingzhi
Guangdong Key Laboratory for Genome Stability and Disease Prevention and Marshall Laboratory of Biomedical Engineering, Shenzhen University Medical School, Shenzhen, Guangdong, China.
Shenzhen University-Friedrich Schiller Universität Jena Joint PhD Program in Biomedical Sciences, Shenzhen University School of Medicine, Shenzhen, Guangdong, China.
Front Neurosci. 2023 Aug 3;17:1242448. doi: 10.3389/fnins.2023.1242448. eCollection 2023.
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 () have been identified. Among these , , 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.
原发性小头畸形（MCPH）是一种神经障碍，其特征是脑容量小，会导致许多发育问题，包括智力残疾、运动和语言发育迟缓以及癫痫发作。迄今为止，已鉴定出30多个导致MCPH的基因。其中，编码异常纺锤样小头畸形相关蛋白（ASPM）的ASPM是最常发生突变的基因。ASPM调节有丝分裂事件、细胞增殖、复制应激反应、DNA修复和肿瘤发生。此外，通过数据挖掘方法，我们已经证实ASPM的高表达与几种类型肿瘤的不良预后相关。在这里，我们总结了ASPM的神经和非神经功能，并深入探讨了其对MCPH和癌症诊断及治疗的意义。
