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

Xingxuan Wu1,2,3, Zheng Li1, Zhao-Qi Wang2,3

  • 1Guangdong Key Laboratory for Genome Stability and Disease Prevention and Marshall Laboratory of Biomedical Engineering, Shenzhen University Medical School, Shenzhen, Guangdong, China.

Frontiers in Neuroscience
|August 21, 2023
PubMed

Insights

Primary microcephaly (MCPH) is linked to mutations in the MCPH5 gene, encoding ASPM. This protein

Area of Science:

  • Neuroscience
  • Genetics
  • Oncology

Background:

  • Primary microcephaly (MCPH) is a neurological disorder causing small brain size and developmental issues.
  • Over 30 MCPH-associated genes have been identified, with MCPH5 being the most frequently mutated.
  • The MCPH5 gene encodes the abnormal spindle-like microcephaly-associated protein (ASPM).

Purpose of the Study:

  • To summarize the neurological and non-neurological functions of ASPM.
  • To explore the implications of ASPM in the diagnosis and treatment of MCPH and cancer.

Main Methods:

  • Literature review and data mining approach.
  • Analysis of gene expression data in tumors.

Main Results:

  • ASPM plays crucial roles in cell division, DNA repair, and cancer development.
  • High ASPM expression correlates with poor prognosis in various cancers.
  • ASPM mutations are a common cause of primary microcephaly.

Conclusions:

  • ASPM is a key protein with dual roles in neurological development and cancer.
  • Understanding ASPM's functions can aid in developing diagnostic and therapeutic strategies for MCPH and cancer.
Keywords:
ASPMMCPH5cancermicrocephalyneurogenesissmall brain

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