14 DAY TRIAL // For a very long time, scientists had a hard time figuring out whether autism is triggered by environmental factors, or if it develops based on genetic aberrations and predispositions. A new study demonstrates that three genes play a role in allowing the condition to develop.
While the results of the new investigation will not lead to the creation of a treatment against this condition, they will enable scientists to explore new avenues of research in this regard. Genetic leads are usually very promising, analysts comment.
Additionally, the team behind the work believes that many other genes may play a role in autism. If three were discovered during the recent study, then many others probably managed to elude detection.
The study was led by experts at the Mount Sinai School of Medicine, who published details of the three genetic variations in a series of studies that appear in the latest issue of the top scientific journal Nature.
The three genes the MSSM team identified are called CHD8, SNC2A, and KATNAL2, and were found using modern genomic techniques, PsychCentral reports. The approach is called exome sequencing.
The exome is made up of all the protein-coding regions of the genome. This research technique analyzes these areas exclusively, paying little attention to any other type of genetic material.
“We now have a good sense of the large number of genes involved in autism and have discovered about 10 percent of them. We need to study many more parents and their affected children if we are to uncover the genes important in ASD,” researcher Joseph Buxbaum, PhD, explains.
“As these genes are further characterized, this will lead to earlier diagnosis and novel drug development. This work is crucial for advancing autism treatment,” the scientist goes on to say.
Interestingly, the new research revealed that the genetic mutations mostly come from paternal lines, especially from older fathers. This had been proposed before, but not confirmed with concrete evidences.
“When the same mutations are found in multiple affected children and none are found in children without autism, we believe that we have identified mutations that collectively affect a higher proportion of individuals with autism,” Buxbaum adds.
“Our studies revealed that the proteins encoded by the mutated genes interact with each other far more than expected, demonstrating significantly greater connectivity than would be expected,” he concludes.