Monday, December 5, 2016
Autism spectrum disorders: New genetic cause of identified
Autism is a general term for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. Diagnosis of all forms of the disorder are put under one umbrella called autism spectrum disorder or ASD. Autism appears during the early stages of brain development around 2-3 years old and affects 1 in 68 American children. Under the website for the organization, Autism Speaks, they state some factors that can increase the risk for the child. But cases of autism are complex.
In a new study published in Cell, a team of researchers led by Gaia Novarino, professor at IST Austria, has identified a new genetic cause of ASD. With her team, they were able to identify mutations in a gene called SLC7A5 in several patients born to consanguineous marriages and diagnosed with syndromic autism. This gene transports a certain type of amino acids into the brain. The researchers performed studies on mice to understand how the mutation lead to autism. They removed the gene altogether from the mice and discovered that is caused an interference with protein synthesis in neurons. As a result, the mice showed symptoms including reduced social interaction, behavior changes. The team then reintroduced the missing SLC7A5 gene into the mice and after three weeks, improvements in behavior were observed. The researchers are excited about their results. They've found a potential treatment for a form of ASD but only in mice. It would take many more years of research until this process can be performed on human patients. Prior to the study, ASDs were always thought to be irreversible conditions.
All in all, medical research has progressed positively in the right direction. Even though there aren't cures, mechanisms are just as important pieces of information on disorders and diseases.