Autism: Beyond the Genes

As scientists look for genes that may be responsible for Autism Spectrum disorders or ASD, a new study points to regions of DNA outside of genes. That may be confusing because normally with genetic disorders, you think of single gene mutations that cause disease, for example, sickle cell disease. However, in ASD, the genes involved that we know about so far only account for a small fraction of new cases. So, the question is can mutations in other regions of the DNA contribute to ASD?

To answer that question, scientists analyzed the genomes of eighteen hundred families that have one child with ASD. They used an artificial intelligence approach called deep learning which applies an algorithm in successive analyses to find subtle patterns we'd miss.

The algorithm taught itself to identify regions of the DNA to which over two thousand proteins could bind. How they bind is key to how genes are used. The program also learned to predict which mutations would disrupt that binding process and gave a 'disease impact score.'

Then, they sorted over one hundred twenty thousand mutations that could affect gene are used in these families' DNA. They discovered significant numbers of mutations in areas of DNA that don't code for genes. For example, there's a significant connection between non-gene mutations and IQ. This supports the finding that forty to sixty percent of people with ASD have an intellectual disability.

It is likely ASD results from many combinations of mutations, gene and non-gene. The bad news is, this also means gene therapy won't likely cure Autism.