Nav: Home

Framework identifies genetic missense mutations linked to autism spectrum disorder

June 11, 2018

Missense mutations occur when there is a change in one gene's DNA base pair, and the change results in the substitution of one amino acid for another in the gene's protein. Mutations that disrupt the function of proteins are widely recognized as a risk source for development disorders such as intellectual disability, congenital heart defects and autism spectrum disorder (ASD).

A new study published in Nature Genetics established a computationally integrated approach to investigate the functional impact of missense mutations. The team, which includes Carnegie Mellon University's Kathyrn Roeder, tested the approach by analyzing genetic structures of individuals with ASD who also had mutations as well as their siblings who did not have the mutations. They found that the framework successfully identified and prioritized missense mutations that contribute to disease or disorder risk.

"Identifying genetic mutations that increase the likelihood of disease is a major challenge to progress for personalized medicine. Using a machine learning model that predicts which mutations are likely to perturb the human interactome network, we showed that these mutations are much more likely to occur in autistic children than their siblings," said Roeder, the UPMC Professor of Statistics and Life Sciences in the Dietrich College of Humanities and Social Sciences. "This result extends to several other mental disorders suggesting that our finding may have even broader applicability."
-end-
Read the full study.

In addition to Roeder, the team included CMU's Jiebo Wang; the University of Pittsburgh's Bernie Devlin and Lambertus Klei; and Cornell University's Siwei Chen, Robert Fragoza, Yuan Liu and Haiyuan Yu.

The National Institute of General Medical Sciences National Cancer Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute, National Science Foundation, National Institute of Mental Health and the Simons Foundation Autism Research Initiative supported this work.

Carnegie Mellon University

Related Autism Spectrum Disorder Articles:

Possible early diagnosis of autism spectrum disorder
Measuring a set of proteins in the blood may enable earlier diagnosis of autism spectrum disorder (ASD), according to a study from the Peter O'Donnell Jr.
Mice provide insight into genetics of autism spectrum disorders
The CHD8 gene is associated with some cases of human autism.
Article examines studies on antidepressants, autism spectrum disorders
A new article published by JAMA Pediatrics reviews and analyzes a small collection of studies on fetal exposure to antidepressants and autism spectrum disorders.
One in 3 teens with autism spectrum disorder receives driver's license
A new study from finds one in three adolescents with autism spectrum disorder acquires an intermediate driver's license, and the majority does so in their 17th year.
How prenatal maternal infections may affect genetic factors in autism spectrum disorder
In a new study, researchers at the University of California San Diego School of Medicine, University of Cyprus and Stanford University map the complex biological cascade caused by MIA: the expression of multiple genes involved in autism are turned up or down by MIA, affecting key aspects of prenatal brain development that may increase risk for atypical development later in life.
Immune research advances understanding of autism spectrum disorder
In the Biological Psychiatry special issue 'Neuroimmune Mechanisms in Autism Spectrum Disorder,' guest editor Professor Kimberley McAllister of the University of California, Davis, presents five reviews and three original research articles highlighting advances that are transforming the field of autism spectrum disorder (ASD) research.
Outdoor adventure program is a promising treatment for autism spectrum disorder
A new Tel Aviv University study finds outdoor challenge-based interventions may be effective in reducing the overall severity of autism spectrum disorder (ASD) symptoms.
Typical male brain anatomy associated with higher probability of autism spectrum disorder
A study of high-functioning adults with autism spectrum disorder suggests that characteristically male brain anatomy was associated with increased probability of ASD, according to a new article published online by JAMA Psychiatry.
New brain target for potential treatment of social pathology in autism spectrum disorder
Researchers at Rosalind Franklin University of Medicine and Science have induced empathy-like behavior by identifying then manipulating a brain circuit in an experimental model, an indication that new strategies may help people with autism spectrum disorder gain social abilities.
Scientists uncover possible therapeutic targets for rare autism spectrum disorder
Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder.

Related Autism Spectrum Disorder Reading:

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Jumpstarting Creativity
Our greatest breakthroughs and triumphs have one thing in common: creativity. But how do you ignite it? And how do you rekindle it? This hour, TED speakers explore ideas on jumpstarting creativity. Guests include economist Tim Harford, producer Helen Marriage, artificial intelligence researcher Steve Engels, and behavioral scientist Marily Oppezzo.
Now Playing: Science for the People

#524 The Human Network
What does a network of humans look like and how does it work? How does information spread? How do decisions and opinions spread? What gets distorted as it moves through the network and why? This week we dig into the ins and outs of human networks with Matthew Jackson, Professor of Economics at Stanford University and author of the book "The Human Network: How Your Social Position Determines Your Power, Beliefs, and Behaviours".