Latest News » Type and severity of autism may be defined by gene mutations, new research shows

New research reveals that different gene mutations may influence the type and severity of an autism spectrum disorder.

A new study into the causes of autism finds that varying gene mutations may be instrumental in determining the type and severity of a given autism spectrum disorder (ASD).

The research team, led by Dennis Vitkup, an associate professor of systems biology and biomedical informatics at Columbia University, pored over approximately 1,000 genes across hundreds of ASD patients to find a link between gene mutations and ASD symptoms. Their data found that the more damaging genetic mutations typically correlate with more severe ASD symptoms, such as exhibiting little to no verbal skills. Conversely, those with less severe gene mutations also demonstrated less severe symptoms.

The study's findings also pointed to a gender gap in ASD patients too. Males are more likely to develop autism than females, but females on the spectrum are more likely to develop the more severe disorders.

"If we can understand how different mutations lead to different features of [autism], we may be able to use patients' genetic profiles to develop accurate diagnostic and prognostic tools, and perhaps personalize treatment," said Vitkup in a Columbia University press release. "Huge progress has been made in the last five years: We and our colleagues have now identified multiple affected genes, and we are coming to a consensus about how the genes work together in biological networks. Now, based on the affected genes, we are identifying cell types and brain circuits and trying to connect them to disease outcomes in individual patients."

As exciting as this finding is, it's also just one of several promising new developments in the world of autism research, where, as Vitkup mentions, progress is constantly being made in finding new ways to treat or even prevent autism spectrum disorders.

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