Cold Spring Harbor, NY — Two major studies were conducted by scientists in an attempt to take a closer look at the genes that could possibly be held responsible for causing autism in children. The studies, which identified more than a hundred genes, were both published in the journal Nature.
It has long been believed that autism in children is possibly passed down through genes parents genes, but the research conducted by scientists at Cold Spring Harbor Laboratory in New York found this not to be true. According to the studies, the mutations found in the genes of children were de novo or spontaneous; their parents do not have the same gene mutations. However, as to what causes these spontaneous genetic mutations, still remains unclear.
The studies, which involved researchers from over 50 laboratories, tested the genes of more than 3,000 individuals which includedboth the children with autism and their parents, and their unaffected sibling. Researchers compared genes from within families which helped them rule out autism being a congenital condition.
Scientists also compared genes of the children with autism to see which of the genetic mutations were common among them– but only looked at about less than 2% of the human genomes, with their concentration more on the parts that involved protein production.
The study also suggests that a certain group of mutations have contributed to autism in high-functioning boys with high IQ, while another group were responsible for autism in both boys and girls with lower IQ. One of the studies also proposed that autism in girls is less likely, and that they are only susceptible to the developmental disorder when these mutations occur during the early stages of their conception.
Michael Ronemus, an author for one of the studies, said that even though over a hundred genetic mutations were found in children with autism, these mutations only affect the same biological functions in the children. Ronemus told:
“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. We already know that if you intervene early on, you can produce a more optimal outcome.”
Dr. Matthew State, a senior participant for one of the studies and chair of the psychiatry department at University of California in San Francisco said of the research:
“In my view, the real importance of these studies is not diagnosis, and it’s not figuring out exactly what percentage of people have de novo mutations, it’s about laying the foundation to transform the understanding of the biological mechanisms of autism.”
Contributed by Althea Estrella Violeta