A mutation in the promoter region of the gene encoding the glutamate transporter EAAT2 is associated with increased neurological deterioration after stroke.

For neurons, overexcitement is deadly. To avoid this, brain cells must sop up unneeded neurotransmitters from the synapse through membrane-bound transporters. If these transporters fail, neurons and other brain cells get excited to death—a phenomenon that may contribute to brain damage during stroke and Alzheimer's disease.

Indeed, brain deterioration after stroke is associated with elevated levels of glutamate—the major excitatory neurotransmitter in the mammalian central nervous system (CNS)—in the plasma and cerebral spinal fluid. One possible explanation for this glutamate build-up, reported by Mallolas and colleagues on page 711, is a mutation in the gene encoding the glutamate transporter protein EAAT2.

This mutation—a single adenine (A) to cytosine (C) change in the EAAT2 promoter—was equally prevalent in healthy individuals and stroke patients....

The Rockefeller University Press
2006
The Rockefeller University Press
2006
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