AANS Neurosurgeon | Volume 27, Number 3, 2018

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Mutation in Common Protein Triggers Tangles, Chaos Inside Brain Cells

A pioneer in the study of neural cells revealed today (Oct. 23, 2018) how a single mutation affecting the most common protein in a supporting brain cell produces devastating, fibrous globs. These, in turn, disturb the location of cellular processing units, harm the flow of energy and signals through the brain, and reduce the formation of myelin, an essential insulator for neurons.

Su-Chun Zhang, a professor of neuroscience at the University of Wisconsin–Madison who is a medical doctor and Ph.D. researcher, looked at astrocytes, which are distinct from the signal-transmitting neurons, but play multiple roles in the brain. Astrocytes comprise 20 to 40 percent of cells in the brain.

Astrocytes in the study were grown from adult cells that were converted into stem cells. The adult cells were donated by the families of two patients with Alexander disease, a rare, fatal genetic disorder.

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