The link between mutations in CACNA1C and Timothy syndrome symptoms

Gemma Wilkinson, Research student, Cardiff University


Patients with Timothy syndrome often have developmental delays, including autism spectrum disorder and intellectual disability. My research aims to find how mutations in CACNA1C lead to these symptoms.

To do this, I am using cells from patients with Atypical Timothy Syndrome. We are able to take a blood sample from patients and turn the blood cells into stem cells, which we can then grow into brain cells (neurons) to study.

CACNA1C is an important gene during brain development, so I am investigating the ability of patient cells to become neurons and the different types of cells that are produced.

Additionally, once we have produced neurons, we can measure their electrical activity to see how well connected they are, as patients with autism spectrum disorder often show alterations in brain connectivity and activity.

The two images below show the cells throughout the differentiation process.

When the cells first start to produce neurons, they grow outward from the large clump of cells in the centre of the image.

The cells at Day 21
The cells at Day 30

By Day 30, you can see a lot more neurons, and they have long processes, which is how they connect to each other to signal.

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