Gene Studies Attempt to Solve Autism Mystery

Gene Studies Attempt to Solve Autism Mystery

The mystery surrounding autism’s causes frequently leads to research, including gene studies. New gene studies investigating hundreds of families of children with autism have pointed out that mutations might be responsible for some cases of autism.

In the recent gene studies, mutations in genes that code proteins appear to be linked to autism. These mutations are more present in older parents, and fathers are four times more likely than mothers to pass on these mutations; this research points to an answer as to why older parents have an increased risk of having a child with autism.

The exome, or the part of genes that codes for proteins, is the piece responsible for this risk of autism. According to the gene studies, these mutations could result in a five to 20 percent higher risk for developing autism. These genetic mutations can happen anywhere across the genetic code and are typically harmless, but when those genomes are needed for brain development, it can cause problems.

The teams of researchers, led by Mark Daly of the Broad Institute at Harvard and Massachusetts Institute of Technology, Dr. Matthew State of Yale University and Evan Eichler of the University of Washington in Seattle, are identifying genes that could be used to find treatments for autism. While scientists have found dozens of genes that might increase the risk of autism, the disorder is complex and has so many varieties that genes often only account for 10 to 20 percent of cases; however, many scientists believe genetics to be accountable for 80 to 90 percent of cases.

The combined results from these three gene studies propose there are 600 to 1200 genes that might be responsible for causing autism. Identifying these genes can improve the prediction of autism, and these gene studies will also improve scientists’ knowledge of neurobiology and treatment.

The gene studies are also based on new technology; the new DNA sequencing technology allows for a clearer view of the genetic landscape, which gives scientists a better tool for finding a cause and ways to better treatment.

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