Science Summary: Altered network and rescue of human neurons derived from individuals with early-onset genetic epilepsy

Science Summary: Altered network and rescue of human neurons derived from individuals with early-onset genetic epilepsy

Stephen Windisch is a med student and the uncle of TESS Superhero, Meredith. Tanya Brown, PhD, is our TESS Scientific Director. Each quarter, Stephen and Tanya simplify a scientific publication and highlight a key term in order to help build our SLC13A5 knowledge and vocabulary.

In order to fully understand SLC13A5 Epilepsy, it is necessary to study this disease from multiple angles, using many different tools. Thanks to TESS families, the TESS Research Foundation has been able to create different research tools, including induced Pluripotent Stem Cells, or iPSCs. These are cells taken from a person’s skin or blood, which are altered to gain the ability to transform into any type of cell. iPSCs make it easier to study disorders affecting the brain, such as SCL13A5 Epilepsy, because we gain an unlimited supply of neurons (cells of the brain) that are affected by the genetic disorder! The SLC13A5 iPSCs were created by Dr. Adriana Beltran at the University of North Carolina and are now being used for research in multiple labs to study SLC13A5 Epilepsy.

Although the studies using the SLC13A5 iPSCs are not yet complete, there have been other iPSC studies focused on different types of Epilepsy. These can give us guides as to what we can expect from SLC13A5 iPSC studies in the future. For example, this study, done by Negraes et al., is focused on a disease caused by changes to the CDKL5 gene. CDKL5 deficiency disorder (CDD) includes seizures that start at a young age, a delay in intellectual ability, and abnormal movements. We can use this study as a good example of what future SLC13A5 studies can offer. This study used CDD iPSCs to learn:

  • CDD neural progenitors (the cells that become neurons) have trouble reproducing
  • CDD neurons have a different cell shape that limits their ability to communicate with other neurons
  • How to identify new therapeutics through drug screening. The authors tested 1112 different compounds using the CDD neurospheres (neurospheres are like mini brains in a dish)!

These studies provide a better understanding of CDKl5 deficiency and show how patient-derived iPSCs can provide critical research tools to work towards new therapies.

There is currently a research team at IST Austria and Neurolentech led by Drs. Gaia Novarino and Carsten Pfeffer working on characterizing SLC13A5 iPSCs. This research will give us further insight into SLC13A5 Epilepsy and how cells in the brain work when there are changes to SLC13A5. This work is helping pave the way to discover new, effective treatments for SLC13A5 Epilepsy.

Key word: iPSC (induced pluripotent stem cells): cells that are able to become many other types of cells, including the cells in the brain

Why this is important: We now have SLC13A5 iPSCs that can be used to understand SLC13A5 Epilepsy. The initial steps are characterizing these lines and providing a description of what these cells look like and how they behave. Next, we may be able to use them to find new therapies for SLC13A5 Epilepsy.

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