In a study published today, Waisman Center investigators Su-Chun Zhang, Albee Messing and colleagues point to new understandings of the broad range of effects that result from the GFAP mutation impacting astrocytes — important supporting cells which comprise 20 to 40 percent of all cells in the brain.
Cells donated by patients with Alexander disease were converted into stem cells and differentiated into astrocytes. Those astrocytes formed fibrous globs of the protein GFAP, which disturbed organelles, disrupted molecular traffic systems, and reduced myelin formation.
When the GFAP-mutated stem cells were corrected with gene editing, the looked normal.
GFAP is so common, in fact, that astrocytes are identified through its presence, Zhang says. “GFAP was a big player for some reason, but nobody knew the broad range of effects, up until today.”
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