Mutated Genes and Autism: New Research Released Today

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Columbia University Medical Center released new information discussing how the diversity of autism mutations can lead to different disease outcomes.

 As researchers continue to explore autism, one theme consistently emerges; individuals with autism may have a wide range of symptoms and these symptoms may be so diverse from patient to patient that predicting autism symptoms and expressions is often impossible. But a recent large-scale analysis of hundreds of patients and 1,000 genes discovered how diversity among traits is actually traceable to genetic mutations.

The study narrowed down hundreds of genes that, when mutated, are likely to increase the risk of developing autism spectrum disorder (ASD). The great variability of individuals with ASD is thought to come from underlying genetic changes and can be traced to the specific genes mutated as well as the severity of the mutation.

 “If we can understand how different mutations lead to different features of autism spectrum disorder, we may be able to use patients’ genetic profiles to develop accurate diagnostic and prognostic tools and perhaps personalize treatment,” said senior author Dennis Vitkup, PhD. He is an associate professor of systems biology and biomedical informatics at Columbia University’s College of Physicians & Surgeons.

 The study analyzed genetic and clinical data on hundreds of patients with ASD from the Simons Simplex Collection.

The group discovered that higher damaged genetic mutations led to worse disease outcomes for ASD individuals. “It looks as if high-IQ autism cases are usually triggered by milder mutations” said Dr. Vitkup. Patients examined with low-verbal or nonverbal IQs typically had gene mutations that were more active in the brain, while high IQ individuals were less likely to have mutations shutting down genes. Instead, the mutations in high IQ individuals examined only partially damage gene function in the brain and they appeared to be predominately associated with high functioning autism cases.

“There are many hypotheses about the types of neurons and circuits involved in autism, but by using unbiased genome-wide approaches, like the one used in this study, one can understand which neurons are the most important and explain the core features we see in people with ASD,” said Dr. Vitkup.

You can read more about the recently published research from Columbia University Medical center here. This study was originally published by Columbia University Medical Center in the journal Nature Neuroscience.

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