Stem Cells Help Explore Brain Development In Down Syndrome Patients

May 28, 2013

Brett Smith for redOrbit.com Your Universe Online

By reengineering skin cells from individuals with Down syndrome, scientists at the University of Wisconsin, Madison were able to learn how stem cells develop into dysfunctional brain cells when they contain an extra copy of chromosome 21, the genetic cause of the disorder.

Even though Down syndrome is very common, its surprising how little we know about what goes wrong in the brain, said Anita Bhattacharyya, a stem cell researcher and co-author of a paper based on the research that appeared in the Proceedings of the National Academy of Sciences.

These new cells provide a way to look at early brain development, she added.

The Wisconsin researchers began by transforming two Down syndrome patients skin cells into induced pluripotent stem cells, which can then be converted into brain cells.

Bhattacharyya said she noticed something unique about the neurons as they were developing.

They communicate less, are quieter, she said. This is new, but it fits with what little we know about the Down syndrome brain.

The team found that developing neurons in the study had only about 60 percent of the usual number of synapses compared to healthy brain cells. Synapses are the junctures where nerve cells connect with each other and which allow for communication via the transmission of electrical signals.

This is enough to make a difference, Bhattacharyya said. Even if they recovered these synapses later on, you have missed this critical window of time during early development.

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Stem Cells Help Explore Brain Development In Down Syndrome Patients