Cortical Complications

Forming the outer layer of the brain and responsible for higher cognitive functions, the cerebral cortex has a complex development. Mutations in the gene DDX3X disrupt this delicate process, causing DDX3X syndrome, a condition with symptoms including intellectual disability and autism. Recent research in mice explores how DDX3X affects neurogenesis, the formation of neurons during development. Total absence of the DDX3X protein has severe impacts, leading to microcephaly, a smaller head size, in female mice; in males, a gene on the Y chromosome can partially compensate. Yet losing even one copy of DDX3X is problematic, inducing neural progenitor cells (pictured in green) to divide more slowly, producing fewer neurons (in purple). Ultimately, DDX3X is involved in translation, the process of producing proteins from RNA, and is needed to make several proteins involved in neurogenesis. Greater understanding of the mechanics of DDX3X syndrome should yield new opportunities for potential treatments.

Written by Emmanuelle Briolat

Emmanuelle Briolat

Writer

A researcher specialising in visual signals in Lepidoptera, camouflage and the effects of light pollution, Emmanuelle’s writing covers a range of topics, from biomedical research to children’s books about moth defences.

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• Image from work by Mariah L Hoye and colleagues
• Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA
• Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)
• Published in eLife, June 2022