Researchers State That Over 100 Gene Mutations Lead to Autism Development

In the years of studying the development of autism disorders, it has been difficult to pin down specific genes that may lead to the disorder, due to the lack of technology or the amount of families willing to let their child be tested. However, a recent analysis of years of research has lead scientists to state that over 100 different gene mutations contribute to the development of autism.

In total, researchers at over 50 laboratories were able to identify over 100 mutated genes that were leading to development of autism spectrum disorders (ASD). Over a dozen of these genes had not been identified previously as playing a role in autism.  According to the scientists, at least 30 percent of mutations are spontaneous, and have nothing to do with genetic inheritance from the child’s parents.

Michael Ronemus, researcher at Cold Spring Harbor Laboratory, states, “There’s somewhat of a mechanism difference in the genes that are being hit, and the way that gene function is being changed.” For example, his study found that the mutations in girls affected genes that play crucial roles during initial stages of the embryo in the womb. Because girls are much less likely to get autism than boys, scientists believe it takes a heavy hit like this for the disorder to develop in girls.

Ronemus and his colleagues tested genes of over 3,000 people, including children with the disorder as well as their parents and an unaffected sibling. Analyzing genes within families helped researchers configure which mutations are not inherited, and rather, occur spontaneously. Then, the mutations were compared among all participants, to see which ones were shared in the individuals with autism.

Ronemus states, “The amazing thing about autism genetics is that in many cases, you disrupt just one copy of the gene, you cause some sort of dysfunction”. This is very different from other disorders involving genetics, which require mutations on both copies of the gene in order to cause any disruption.

Scientists are now beginning to use faster and less expensive gene-scanning technology to study the shared mutations in people’s entire genomes, which will allow them to analyze hundreds more potential mutations. Ronemus states, “If we have better genetic screening when a child is diagnosed with autism, we might be able to say, here is the behavioral intervention they need”. When you are able to intervene early, the child is able to receive the best and most effective care and therapy at an earlier age, allowing them better opportunities to develop important skills.

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