As we’ve repeatedly touched upon in our reporting of the most up-to-date and remarkable breakthroughs in autism research, many scientists these days are looking at either genes or the brain in their search to identify a root cause for autism. And in two recent reports published, it’s becoming clear that in 2015, the future of autism research can be traced back to either genetic mutations or neurological abnormalities.
Firstly, in looking at a recent breakthrough in genetic research, a pair of researchers, Ronald T. Raines and Sean B. Johnston conducted a study that was recently published in the ACS journal Biochemistry that built on prior research that identified a matching genetic mutation in both cancer patients and patients with autism. According to Raines and Johnston, the genetic defect, which would otherwise code for a protein critical for normal cellular health, reduces the activity and stability of the protein, which could help lead to new treatments for both cancer and autism.
As the researchers explained, a small subgroup of people with autism and many patients with uninherited cancers have abnormalities in the genetic blueprint for a protein called PTEN, which helps to promote genetic stability, repair DNA, and regulate cell growth. In the lab, the duo tested PTEN proteins from patients with different types of cancer and from patients with autism spectrum disorders. They found that the compromised proteins, particularly from the cancer patients, easily lost their shape and couldn’t function well at body temperature and concluded that drugs designed to stabilize these fragile proteins could represent a promising direction for new therapies.
Moving onto a recent breakthrough in neurological research, Researchers in Mississippi and California say they have proven that the brain can be rewired which could translate into a treatment for autism. The study was published Monday in the Proceedings of the National Academy of Sciences. The report’s co-author is Dr. Rick Lin, professor of neurobiology and anatomical sciences at the University of Mississippi Medical Center.
Currently, the findings are limited to the test subjects, which were rats. But the results that found that the animals’ brains could be rewired through intensive auditory behavioral therapy hold much promise for individuals with autism.
The intricacies of a brain’s wiring remains one of the largest puzzles before scientific researchers who have spent years to solve pieces of the complex mechanism. So when the UMMC team, working with scientists at the University of California in San Francisco, discovered the potential reset button, the discovery immediately drew questions of what the findings could mean for the future of autism treatments and, it is hoped, better outcomes.
The particular test subjects were injected with a drug that stimulated serotonin receptors which in turn induced autistic-like behaviors in the young rats, said Lin. “The rats, they were just not going to play with one another,” Lin said of the test subjects. “Just how a child with autism prefers to play by himself, so were these animals.
While neither study has identified a clear treatment, both have paved important paths forward that will hopefully result in very real treatments for patients with autism and cancer.