"New Genetic Mutation Uncovered as Cause of Microcephaly Development"

An international research team discovered a mutation in the EXOSC10 gene that causes microcephaly, shedding light on the genetic mechanisms affecting brain development.

• The international research team, led by Dr. Tran Tuoc from Ruhr University Bochum, identified a mutation in the EXOSC10 gene linked to microcephaly, affecting the cerebral cortex.
• This genetic mutation influences the functioning of RNA within neural stem cells, disrupting cellular differentiation and leading to a smaller brain size in affected individuals.
• The study highlights the role of the Sonic hedgehog protein in brain development, indicating its potential connection to the mechanisms that cause microcephaly.