By developing iPS cells from cells isolated from an autistic boy's baby teeth and turning them into neurons, researchers from the University of California, San Diego, were able to home in on a potential genetic cause of his condition, Wired reports.
As the UCSD researchers write in their Molecular Psychiatry paper, genomic analysis of the boy revealed a de novo balanced translocation disruption of the TRPC6 gene, which encodes a cation channel. Using iPS cells derived from the boy and controls, the researchers found that a reduction in TRPC6 levels leads to changes in neuronal development, morphology, and function. This, they added, could be rescued by treating the cells with insulin-like growth factor-1 or hyperforin, a TRPC6-specific agonist.
This gene disruption, Alysson Muotri from UCSD, tells Wired is likely a source of this boy's autism, though probably not the only gene involved.
Wired adds that the boy took St. John's wort, which contains hyperforin for about a month. While his dad and some of his therapists and teachers saw an improvement in his behavior and focus, his mother did not. "But this wasn't meant to be a rigorous trial," Wired notes, adding that Muotri points out that it wouldn't even be expected to possibly work in cases of autism without this mutation.
She also notes that if this iPS-based approach could be refined into a diagnostic, it wouldn't be cheap, saying that it'd likely cost $100,000 to create and examine neurons from a single patient.