Medical Research Council - London Institute of Medical Sciences

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Cortical Complications

Genetic mechanisms underlying brain disorders in DDX3X syndrome

30 July 2022

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

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