KCNQ1 disruption alters human neuronal development through mitochondrial and insulin signalling pathways.

Disruption of KCNQ1 impairs human neuronal development by reducing mitochondrial function, insulin signalling, and synaptic activity in neural cells.

• Why it matters: Understanding KCNQ1's role in neurodevelopment is crucial because its mutations are linked to neurological disorders, yet its specific functions in human neural cells are unclear.
• What they did: Researchers generated KCNQ1 knockout human induced pluripotent stem cells and differentiated them into neural stem cells and cortical neurons, analyzing their development through multi-omics and functional assays.
• The result: KCNQ1 deficiency led to impaired neurite outgrowth, mitochondrial dysfunction, disrupted insulin signalling, decreased synaptic activity, and an immature neuronal transcriptional profile, highlighting its role in neuronal maturation.