Investigation of RNA editing in intron 7 of EAAT2 and its relevance to MND

Description:

What this research means to you: Excessive amounts of a substance called glutamate, which is found naturally in the central nervous system (CNS), can contribute to motor neurone degeneration. This project will investigate a problem with the manufacture of glutamate transporters, which normally “mop up” excess glutamate. The results may point to possible treatment strategies.

The researcher explains in more detail: The chemical glutamate is responsible for transmitting signals from one neurone to the next and is found throughout the CNS. However, too much glutamate can ultimately lead to neuronal death. Proteins known as glutamate transporters (e.g. EAAT2) are responsible for removing excess glutamate.
The EAAT2 gene provides the genetic instructions to build the EAAT2 glutamate transporter. Previous research has suggested that there is sometimes a problem with the manufacture of the EAAT2 glutamate transporter in MND. Our research group has found that this problem may stem from alterations in the reading of the gene’s instructions when the transporter molecule is being built. The “working copy” of the instructions is modified by editing, and preliminary studies in post mortem brain and spinal cord samples have indicated that more editing occurs in samples from people with MND than controls.
Through the continuing use of post mortem samples and cell culture, this project aims to confirm whether excessive editing is actually the cause of defects in EAAT2 transporters in MND.