Scientists Create an Opportunity for Personalized Treatments for ASD


Autism has always been considered a very complex disorder, affecting each individual quite differently. Scientists have recently found that over 500 genetic variants can increase the risk for autism, although they are still trying to establish just how they contribute to the repetitive behaviors and social difficulties associated with the disorder. Today, scientists are trying to configure the root of autism by collecting cells from individual autistic children and turning them into neurons that they can analyze.

Alysson Muotri, neuroscientist at the University of California, San Diego, and her colleagues have collected cells from the skin, blood, and teeth of autistic children, and turned them into neurons in their lab. By studying their electrical properties, the scientists aim to find out what may be wrong on an individual patient basis, and therefore create ways to treat it. She states, “If we sequence two people with very similar symptoms, what we see is they don’t necessarily have mutations in the same genes.” She continues, “This is not one disease, there are probably several diseases under the umbrella of autism.”

This strategy, which many scientists are picking up on, is based on the Nobel Prize-winning discovery that mature cells can be returned to an immature state, where they have the potential to grow into many different types of cells, including neurons. These intermediate cells are called induced pluripotent stem cells, or iPS cells.

Muotri and colleagues recently studied an 8-year old boy with autism. When one of his baby teeth fell out, the team focused on isolated cells from the dental pulp, turned these into iPS cells, and turned the iPS cells into neurons. Upon analyzing the neurons under a microscope, they noticed several things wrong. They had fewer branches and fewer synapses than neurons made the same way from people without autism. The researchers saw what they thought might be a clue to these abnormalities in the boy’s genome, which is a TRPC6 mutation that disrupts a specific gene. Following up, the researchers treated the neurons by using a drug called hyperforin. The results were promising, as the appearance and firing activity of the neurons became more normal. Based on their findings, Muotri and her team believe that the TRPC6 mutation is highly responsible in the development of the boy’s autism. She states, “TYPC6 is one of the genes that’s affected. [But] I think it’s not the only one.”

These complexities highlight the difficulty of getting to the root of autism development. Ricardo Dolmetsch, global head of neuroscience at Novartis Institutes for Biomedical Research, states, “There’s the issue of are you absolutely sure that a mutation is causative,” Dolmetsch said. “It’s hard to know unless you find it multiple times.” Dolmetsch has been using iPS cells to study autism for some time, and believes that the approach will help bring to light some of the possible causes of certain forms of autism. He believes that autism is caused by multiple gene mutations, as opposed to one major mutation. He adds, “iPS cells will be important to understand how these mutations interact.”

A major reason to study iPS cells is to hopefully develop more targeted treatments. These cells can help scientists identify different categories of autism with different underlying causes. Neurons and other cells derived from iPS cells could also be used in high-throughput drug screens to identify new drug candidates. One optimistic scenario is to have personalized medicine for autism, in which doctors use a patient’s genome and neurons derived from iPS cells to make a diagnosis and select the most effective drugs for that particular patient. Drugs could even be tested on the patient’s own neurons before being prescribed.

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