π§ π A fruit fly study, by an international group of researchers, has pinpointed how a genetic mutation causes one of the important molecular machines in our cells to malfunction. The findings provide a biological mechanism behind episodic ataxia 6, a rare neurological disorder. #Ataxia #ataxia6 #CNS"Episodic ataxia 6 is a debilitating illness that severely impacts balance and coordination and causes vertigo. Patients with episodic ataxia 6 are known to have mutations in the gene SLC1A3"
"In this study, researchers found the
SLC1A3 mutation triggered a 'fault' in the 'twisted elevator' mechanism, in particular the ability of the glutamate transporter to move chloride ions.
The mutation didn't just increase or increase chloride flow, the error went both ways."
Read
the article here.
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Daniel DeFabio
Global Genes
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