Episodic ataxia 6 is a rare neurological disorder, a debilitating illness, which causes balance issues as well as vertigo. The exact causes and the mechanism behind the episodic ataxia 6 are unknown, but scientists have been trying to figure them out using fruit flies.
Now researchers at the University of Sydney have found that episodic ataxia 6 is caused by a genetic mutation, which leads to an impairment of glutamate transporters.
Vertigo and compromised balance are common symptoms of the episodic ataxia 6. Image credit: Scientificanimations.com via Wikimedia (CC BY-SA 4.0)
Previous studies showed that glutamate transporters look a bit like twisted elevators. As you may predict from their name, they transport glutamate, also known as glutamic acid. This compound is involved in the synthesis of proteins. Glutamate transporters also transport water and chloride ions. Essentially, these molecules control chemical signals and make sure our cells seamlessly talk to one another. They are especially important in our neural systems.
In the case of the episodic ataxia 6, the gene SLC1A3, which codes for glutamate transporters, gets compromised. Scientists wanted to see how this mutation impacted the function of glutamate transporters. They recreated the mutation of SLC1A3 gene in fruit fly larvae and found that the ability of glutamate transporters to move chloride ions was compromised.
Larvae with this genetic design flaw were seen walking in circles in an unsteady manner. Unexpectedly, scientists found that SLC1A3 mutation did not impact the ability of glutamate transporters to move glutamate.
Scientists believe that these findings could one day lead to new treatment methods that address the way chloride channels work in our cells. This also provides more knowledge about the SLC1A3 gene as well as the function of glutamate transporters.
Professor Renae Ryan, one of the authors of the study, said: “We were able to show that several mutations in glutamate transporter impacted the chloride channel while the glutamate transporter function was unaffected. This suggests that episodic ataxia type 6 may be directly linked to how chloride levels are balanced in the brain, and not to glutamate transport”.
Glutamate transporters are highly concentrated in glial cells, which is why scientists believe them to be important for chloride homeostasis. This study can improve our understanding of the mechanisms in glial cells and how they can fall apart in the case of diseases.
Episodic ataxia 6 is a rare disorder, but this only makes it more difficult to research. Hopefully, the very few people who have to live with this debilitating disorder will soon get some positive news from studies like this.
Source: University of Sydney