Research — 31 October 2014

There has long been speculation that autism has a genetic basis, but due to a lack of empirical evidence, this theory has remained just that, a theory. A recent study has identified 33 new genes that contribute to autism risk, increasing the list of genes identified with autism spectrum disorder (ASD) from nine to 33. However, what exactly does the identification of autism genes mean for the thousands of families affected by this condition?

In the study, now published in the online journal Nature, two teams of researchers explain how the analysis of 14,000 genetic samples from autistic children and their parents during the past 15 years led to this discovery. As well as identifying 33 genes linked to autism risk, the team also identified 70 other “likely ASD genes.” From this data, the researchers were able to conclude that small differences in some of the 1,000 risk genes may contribute to autism.

According to Dr. Bernie Devlin, a professor of psychiatry at the University of Pittsburgh, who contributed to the research, this is only the beginning for autism gene research. “I am confident that the list of autism genes will expand rapidly because there are already many more samples sequenced,” he explained in a press release.dna-163466_1280

The genes identified play a critical role in brain processes like the formation of nerve networks and the alteration of synapse functions, which allow the brain cells to communicate with each other. Dr. Kathryn Roeder, professor in Carnegie Mellon University’s Department of Statistics and the Lane Center for Computational Biology, who also contributed to the study, believes this discovery fits into what is already known about neural activity.

“This makes sense because typical development of brain cells require intricate coordination among thousands of genes and appropriate communication between cells to ensure development of the brain — the most complicated organ in the human body,” Roeder said in the press release.

What does this ASD genetic breakthrough mean for the ASD individuals and their families? When it comes to autism, understanding what changes in the brain of ASD individuals to make it behave differently than those without the disorder is key, researchers say. “The ever-increasing list of genes involved will surely provide pieces that could solve the puzzle of autism,” Devlin said.

The discovery of these ASD-related genes are a small yet integral step in our understanding and eventual treatment of autism. Joseph D. Buxbaum, lead author of the study, explained that knowing which genes are involved in autism allows scientists to take their research to the next step: cell and animal studies.

Source: Buxbaum JD, De Rubeis S, He X, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014.

This article first appeared on ‘Medical Daily’ on 30 October 2014.

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