Although different genes interact with environmental cues to influence autism, new research finds a common ground as the various genes involved in autism appear to influence special processes in the brain.
The findings may explain the similarities in the behavioral symptoms of different autistics, and also the large spectrum of behaviors observed in different autistic individuals.
Although researchers know that autism has a strong genetic basis, the disorder is influenced by many different genes. Now, research conducted at the Hebrew University of Jerusalem by Dr. Sagiv Shifman and colleagues has the potential to aid early diagnosis as well as treatment of autism in the future.
The study was recently published in the journal PLoS Genetics.
In the current project, researchers tested the contribution of rare genetic mutations, as well genetic variations common to autism, to see whether these different types of genetic risk factors are related.
Instead of testing individual genes, the researchers chose to study gene collections, in an attempt to understand general pathways involved in autism.
Scientists constructed a network based on the expression pattern of genes across different brain areas. This allowed them to discover groups of genes with shared function in the brain.
Next, based on genetic data from thousands of families with autistic children, the researchers studied the contribution of different groups of genes to autism.
Researchers were surprised to find that genetic mutations found in autism, as well as thousands of common gene variants that are more frequently seen in autistics, are located in specific functional groups.
When looking at families with one autistic individual (sporadic cases), and in families where there is more than one affected individual (multiple cases), the same variants were seen acting in both cases.
These groups of genes are highly active in the first year of life, and are involved in processes of learning, memory, and sensory perception.
Scientists believe that the finding could evolve into large-scale genetic scans for early diagnosis of autism.
Further, the results of their study give hope that by concentrating on specific gene groups, it will one day be possible to design drugs that could alleviate symptoms of autism.