The researchers concluded that GFAP abnormality caused by a genetic mutation is the major cause of Alexander disease. They confirmed their conclusion by analyzing brain tissue from 13 cases of the disease. Twelve had the mutations, says Messing. The findings allow now for a prenatal diagnosis of the disease, said Moser. The practical advantages are of the highest order.
Many questions remain though.
We know nothing about what happens in between. We don't know how the mutations affect astrocyte function. Moreover, the finding is prompting Messing to ask more about the role of GFAP in astrocytes and how malfunctioning astrocytes affect the brain. Because GFAP in mice is virtually identical to that in humans, says Messing, the answers the researchers find in studying mice will be highly relevant to humans. Moser also noted that the existence of an animal model for Alexander disease means scientists could look for a possible treatment.