From the Journals

Genetic Mutations in ANO3 Linked to Dystonia

Dysregulated Ca²⁺ signaling due to ANO3 mutations impairs K⁺ channel activation in striatal neurons, offering new insights into the pathophysiology of dystonia.

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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.

Original Source(s)

Genetic Mutations in ANO3 Linked to Dystonia

Dysregulated Ca²⁺ signaling due to ANO3 mutations impairs K⁺ channel activation in striatal neurons, offering new insights into the pathophysiology of dystonia.

  • by Stanley Gajete

  • January 14, 2025

  • 2 min

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