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Using patient iPS cell-derived neurons to learn about autism

Nature Medicine

2011년11월28일

Individuals with Timothy syndrome, a neurodevelopmental disease, have changes in their cortical neuron fate and neurotransmitter expression, reports a paper published this week in Nature Medicine. These findings may begin to explain the neural mechanisms that underlie this disorder. Timothy syndrome includes autism-like features and is caused by mutations in a calcium channel that leads to its over-activation. Ricardo Dolmetsch and colleagues generate induced pluripotent stem cell-derived neurons from individuals with Timothy and compared them iPS-derived neurons from normal control individuals. The researchers found that iPS cell-derived neurons from Timothy syndrome patients had reduced expression of markers characteristic of cortical neurons that project to other areas of the cortex through the corpus callosum — the thick array of axons that connect the two lobes of the cortex together. Timothy syndrome-derived neurons also increased their generation of the neurotransmitters norepinephrine and dopamine due to a rise in the expression of the enzyme responsible for their production. The increase in the enzyme’s expression could be prevented by a calcium channel blocker. Future studies are needed to determine how these changes in the brain would lead to autism-like phenotypes in individuals with Timothy syndrome.

doi: 10.1038/nm2576

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