"Investigators discovered that a genetic mutation in the RNA-binding protein Ataxin-2 (ATXN2) disrupts the stability of microtubules - central components of the cytoskeleton in motor neurons - leading to impaired neuron growth and function. The findings may help inform the treatment of amyotrophic lateral sclerosis (ALS), which progressively destroys motor neurons and leads to muscle weakness and paralysis."
"By observing neurons in fruit flies with and without ATXN2, the research team observed that the gene regulates microtubule dynamics through its RNA-binding domain. When cells were treated with the human version of this domain, scientists were able to restore normal microtubule behavior in fruit flies, suggesting that this function is similar across species. However, when ATXN2 carries expanded polyQ repeats, it was found to form toxic cytoplasmic aggregates that destabilize microtubules and severely impair axon outgrowth - key processes in healthy neuron development."
A mutation in the RNA-binding protein Ataxin-2 (ATXN2) disrupts microtubule stability in motor neurons, causing impaired neuronal growth and function. Expansions in ATXN2's polyglutamine (polyQ) repeats promote formation of toxic cytoplasmic aggregates that destabilize microtubules and severely impair axon outgrowth. ATXN2 regulates microtubule dynamics via its RNA-binding domain, and provision of the human RNA-binding domain can restore normal microtubule behavior in a fruit fly model. The observed mechanism links ATXN2 polyQ expansion to heightened risk for amyotrophic lateral sclerosis (ALS) and points toward potential avenues for therapeutic intervention.
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