Authors:

Hope Harlow

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About Paper:

Epilepsy is a neurological disorder that causes misfiring of neurons, leading to random, oftentimes unprovoked, episodes of seizures. In lab, we study the SCN2A gene, which encodes the sodium ion channel protein type 2 subunit alpha protein, Nav1.2 and is known to cause severe seizures and epileptic episodes in infancy/younger adolescence. A specific mutation that affects the SCN2A gene is the L1342P variant. There are only 6 known cases of epilepsy with the L1342P mutation in the world, so little information is known about how the mutation will affect neuronal development. Therefore, in order to study it, our lab uses hiPSC-derived cortical neurons that have been CRISPR/Cas9 edited to contain the Nav1.2-L1342P mutation. The objective of this project was to assess and quantify the changes in neuronal morphology of hiPSC-derived cortical neurons carrying the Nav1.2-L1342P mutation. Our primary hypothesis was that this mutation would induce alterations in neurite complexity and shape. To achieve this, we employed the advanced software tool Neurolucida360 for comprehensive structural analysis, encompassing soma size and perimeter, number of dendrites, as well as mean and total process length. By comparing the data collected from neurons containing the L1342P mutation with that from neurons without the mutation, we aimed to discern significant differences. Our initial findings suggest that neurons carrying the L1342P variant exhibit diminished neurite complexity in comparison to the control group. These results strongly indicate a potential role of the L1342P mutation in influencing neuronal development.

Source:

Purdue University / 2023

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Co-authors:

Hope Harlow