AANS Neurosurgeon | Volume 26, Number 3, 2017

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Faulty Cell Signaling Derails Cerebral Cortex Development, Could It Lead to Autism?

UNC School of Medicine researchers pinpoint signaling problems in the progenitor cells crucial for proper neuron generation and organization.

As the embryonic brain develops, an incredibly complex cascade of cellular events occur, starting with progenitors – the originating cells that generate neurons and spur proper cortex development. If this cascade malfunctions – if one tiny protein doesn’t do its job – then the brain can develop abnormally.

UNC scientists led by Eva Anton, PhD, professor of cell biology and physiology in the UNC School of Medicine, have shown how the deletion of the protein APC in progenitor cells leads to massive disruption of brain development and the canonical Wnt protein pathway – a signaling cascade– that previously was linked to genes associated with autism.

“Although our experiments were done in mouse genetic models, human APC mutations have been associated with autism,” said Anton, a member of the UNC Neuroscience Center and the new UNC Autism Research Center. “These mutations disrupt the ability of brain progenitors to respond appropriately to the environmental cues necessary for them to divide, and to generate and guide neurons during brain development.”

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