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Innovative Technique to Understand Autism at Gene Level

By Peter R | Update Date: Nov 12, 2014 12:19 PM EST

Treatments to autism at gene level have not been successfully owing to the broad genetic underpinnings of the disease. But researchers have come up with an innovative technique to understand causes at individual level which can pave way for customized treatment in the future.

Wired reported University of California, San Diego researchers using pluripotent stem cells to understand the genetic factors in an 8-year old autistic child. The researchers obtained the pluripotent stems cells (iPS cells) from the pulp of a tooth sent to them by the parents. These iPS cells were later turned into neurons for study.

Researchers found that the boy's neurons had fewer branches compared to normal neurons, and did not fire adequately. They tagged the problem to calcium intake by cells, caused by a mutated TRPC 6 gene. They treated lab neurons with hyperforin to improve calcium intake. Up on examination following treatment, researchers found neurons performed better.

"I see this research as an example of what can be done for cases of non-syndromic autism, which lack a definitive group of identifying symptoms or characteristics. One can take advantage of genomics to map all mutant genes in the patient and then use their own iPSCs to measure the impact of these mutations in relevant cell types," said principal investigator Alysson Muotri, in a press release.

"Moreover, the study of brain cells derived from these iPSCs can reveal potential therapeutic drugs tailored to the individual. It is the rise of personalized medicine for mental/neurological disorders."

The parents of the autistic child gave the boy St. Johns Wort which is known to contain hyperforin. The father reported improvement in child's behaviour.

Researchers however caution that more research is needed before treatments can be customized but the current study is a start.

"Taken together, these findings suggest that TRPC6 is a novel predisposing gene for ASD that may act in a multiple-hit model. This is the first study to use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeling genetically complex sporadic diseases using such cells," Muotri said.

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