Experts working on autism spectrum disorder discovered a major breakthrough in their research. Recently published in Cell, researchers led by Gaia Noverino, identified an important detail that could help them treat the disorder in the near future.
"Our analysis not only revealed a new autism-linked gene, but also identified the mechanism by which its mutation causes autism," Noverino said in an interview as she explains why their discovery can create a new spark of hope to those who suffer from the autism spectrum disorder. She also added that by discovering more details about the genes that causes autism, the higher the possibility that researchers will be able to create the perfect treatment that can revert its effects.
The study, which includes a mouse model, showed how an Slc7a5 gene is crucial for the development of the brain. It is a gene that acts like a fuel that helps maintain the brain's BCAA levels. Deficiency of which can result to neurological abnormalities and other behavioral changes, which are signs of autism spectrum disorder.
The mice underwent some tests that include the removal of SLC7A5 in the barrier that separates blood from the brain, as reported by Medical Express. By doing so, the mice's brain BCAA levels started to decrease, also negatively affecting the protein synthesis in neurons. After going through the tests, the mice showed a huge change on its behavior and on how it interacts.
The International Business Times reported that about one percent of all the population is affected by autism spectrum disorder. With all the people affected, not all of them have the same genetic mutations that causes the problem.
That's why experts are aware that there are still a lot to understand in the condition. However, Novarino added, the recent study "provides us with new ways of thinking about different types of autism, the convergence between them, and steps we can take in the future research."
