New research reveals that mutations in the ANO3 gene cause dystonia by disrupting calcium signaling and potassium channel activation in neurons. The study identified correlations between different ANO3 variants and clinical phenotypes, highlighting increased phospholipid scrambling and calcium sensitivity in certain variants. Dysregulated Ca²⁺ signaling by ANO3 variants may impair the activation of K⁺ channels in striatal neurons of the brain, thereby causing dystonia. Therapeutically, the study noted riluzole as a potential treatment strategy for ANO3-related dystonia, shedding light on the molecular basis of the condition and identifying potential therapeutic targets.
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