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| Huu Phuc Nguyen, Pauline Ulmke, and Tran Tuoc (from left) contributed significantly to the work. Photo Credit: © RUB, Marquard |
Microcephaly is a congenital malformation that leads to a significantly reduced brain size and is often accompanied by developmental delay. An international research team led by Dr. Tran Tuoc from the Department of Human Genetics at Ruhr University Bochum, Germany, has discovered a previously unknown genetic cause for this condition. Mutations in the EXOSC10 gene – a central component of the RNA degradation complex (“exosome”) – cause primary microcephaly. The work was published in the journal BRAIN.
Precise balance of stem cells
During human brain development, neural stem cells must balance self-renewal and differentiation to build the cerebral cortex – the brain’s outer layer responsible for cognition and perception. If this balance is disturbed, malformations occur. “Recent advances in genome sequencing and genetic engineering are transforming our understanding of neurodevelopmental disorders”, Tuoc Tran says.




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