The Science of Autism

Individuals on the autism spectrum range from high functioning with a few mannerisms to those who face severe challenges in everyday life.  With the number of cases seeming to continually increase, research into autism has also increased.  While they have yet identify the cause of autism, there has been a fair amount of progress in recent years.

There are dozens of “suspect genes” that researchers have identified as possibly relating to autism.  In recent research, different groups of scientists have identified that it is not the genes themselves that may be part of the cause of autism, but rather the proteins they produce.  There are an extraordinarily large number of proteins at work in the human body and brain.  The way certain proteins interact indicates that they may be related to autism.

Both findings suggest that different types of autism may share a common pathway even when they occur in distinct syndromes or alone—something that wasn't clear just from looking at the genes.  These common pathways are hopeful targets for drug development, Zoghbi says. "Our interactome is only a first step, but it could lead to a framework to investigate new genes and test new drugs."

 Another study indicates that this is not just an effect of autism, but possibly the cause.

Two other clear-cut patterns emerged when the scientists compared the autistic and healthy brains. First, the autistic brain showed a drop in the levels of genes responsible for neuron function and communication. Second, the autistic brain displayed a jump in the levels of genes involved in immune function and inflammatory response. "By demonstrating that this pathology is passed from the genes to the RNA to the cellular proteins, we provide evidence that the common molecular changes in neuron function and communication are a cause, not an effect, of the disease."

This is incredibly exciting news for individuals affected by ASD, autism spectrum disorder, and hints that there may be a more effective treatment for autism in the future.