Despite some exciting recent advances in early detection methods, autism spectrum disorder is still a frustratingly mysterious and elusive condition. Over 200 genes have been implicated in the condition, but no single mechanism has yet been identified to suggest possible treatment methods. A new study is offering a clue into the origins of the disorder by finding a single dysfunctional protein may be responsible for coordinating expression in all the genes that result in autism susceptibility.
Great advances have been made in recent years, revealing a large assortment of genes that are potentially responsible for the varied behavioral and neurological traits associated with autism. But a genetic predisposition to developing autism is only part of the mystery. Environmental factors, particularly during pregnancy, are thought to play a large role in effecting the expression of those targeted genes.
This new study, from an international team of researchers, has revealed that a single protein was found to be impaired in most cases of autism. This protein, called CPEB4, is vital in embryonic development, assisting with neuroplasticity and helping regulate the expression of certain genes during fetal brain development.
When the researchers studied the brains of a mouse model engineered to have disrupted CPEB4 activity, they found that most of the changes effected by the alteration happened to be in the same genes that previous research found to be implicated in autism. On top of this, the researchers found that the mice engineered with a CPEB4 imbalance were seen to display neuroanatomical, electrophysiological and behavioral phenotypes associated with autism.