Stem Cell Research Yields Cell Model for Autism

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Dr. Alysson Muotri (UCSD), in conjunction with researchers at UCSD and the Salk Institute, reported the development of a cellular model for autism spectrum disorder (ASD) in Cell. The IPS (induced pluripotent stem cells) were derived from adults displaying Rett Syndrome. Rett Syndrome is caused by mutations in the X-linked gene that encodes for MeCP2 proteins; it is a progressive neurological disorder. Once the 6-18 month old infants manifest the syndrome, they have impaired motor function, seizures, and other autistic behavior.  (There is a great diagram of the two cell cultures here.)

The IPS-derived neurons (nerve cells) can now be used to examine the effects of drug therapies. This means that the less-than-satisfactory animal models that have been used can be put back on the shelf. Muotri’s team is now hoping to develop stem cells from children with sporadic autism, an ASD that is found in children and not in their parents.
The neurons (developed from fibroblasts) were smaller than normal cells, with fewer synapses (the means by which neurons communicate with one another), as well as other anomalies (reduced spine density, altered calcium transmission, and other electrophysiological defects). All of these attributes are emblematic of Rett Syndrome. And, after treatment with drugs that have found utility in mice (IGF1 in concert with gentamicin), the neural abnormalities were reversed.
Unfortunately, we do not know if such a result would be obtained in humans. However, infants do not normally manifest the syndrome until they are 6-18 months in age; these test results may indicate that there is a “window of opportunity to treat the infant (assuming there are other tests to indicate the infant is a prime candidate for Rett’s) and have the neural abnormalities reverse or not be manifested.

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