Role of key gene in developmental disability identified

By The Science Advisory Board staff writers

June 29, 2022 -- A single gene previously found to be the driving force in a rare syndrome linked to epilepsy, autism, and developmental disability has now been identified as central to the formation of healthy neurons. The gene, DDX3X, is carried on the X chromosome with females having two copies and males only one.

DDX3X mutations are seen as the cause of 1-3% of intellectual disabilities in females. When DDX3X is altered by a mutation in early development, "you don't get as many neurons over time because this gene is required for the production of neurons from progenitor cells," said Debra Silver, PhD, an associate professor of molecular genetics and microbiology in the Duke School of Medicine who led the research team.

Their findings were published on June 28 in the open access journal eLife. Silver's lab developed a new approach to profiling all the newly made proteins of progenitor cells in a living animal's brain, a technique that could lead to an important understanding of protein synthesis in the brain.

Understanding the cellular processes and molecular targets of DDX3X in the developing brain could help shed light on the basis for many disorders, according to Silver. DDX3X has been implicated in neurodegeneration, some cancer progression, and innate immune responses.

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