How protein mutation is involved in rare brain development disorder

ScienceDaily | 7/3/2019 | Staff
Now, researchers at McGill University focusing on the intellectual disability aspect of the disease, have shown for the first time how a specific mutant form of the SLC9A6 encoding gene for the NHE6 protein affects the ability of neurons to form and strengthen connections. The findings, which the researchers hope could eventually lead to new treatments for patients, are published online in the journal Neurobiology of Disease.

"NHE6 functions like a GPS inside of brain cells, helping other proteins navigate to the correct location to allow the neurons to function properly and remodel the connections they form between themselves during learning and memory situations," explains Dr. Anne McKinney, Professor in the Department of Pharmacology and Therapeutics at McGill's Faculty of Medicine and the study's senior author. "This protein regulates pH of the vesicles, which contain the cargo that moves inside the brain cell. It prevents it from becoming too acidic or too alkali. We now show that if this protein loses its function because of a mutation, then other proteins can no longer be sent to the right places, and thus these neurons are unable to properly undergo learning-type mechanisms. Using methods to regulate the pH of the vesicles we can rescue the cargo trafficking and learning of the neuron."

Discovery - Researchers - Neurons - Dish - Version

To make their discovery, the researchers grew mouse neurons on a dish, expressing a mutant version of SLC9A6 discovered...
(Excerpt) Read more at: ScienceDaily
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