MAR 25, 2016 2:26 PM PDT

The Diversity of Genetic Changes Surrounding Autism Spectrum Disorders

WRITTEN BY: Kara Marker
Through whole-genome sequencing of hundreds of participants from families with children affected by autism spectrum disorders (ASD), scientists from the University of California, San Diego have identified a surprisingly large and diverse population of mutations that impact the development of autism.
 

In their study published in The American Journal of Human Genetics, researchers looked for de novo mutations in the parents and developing siblings of children diagnosed with ASD in addition to examining the DNA of the child with autism. De novo mutations occur spontaneously during early development as a result of mutation in the father’s sperm or the mother’s egg. These mutations contribute to ASD risk by altering gene function, and their spontaneous nature explains why autism can occur even if there is no family history of the disorder.

These spontaneous mutations can appear in a variety of ways. Sometimes the mutation is a simple “spelling mistake” where just one nucleotide letter is changed, although a simple change can still have a dangerous ripple effect on the outcome of proteins created from the genetic code.

The new study also found other, more complex mutations. Structural variants included either an insertion or a deletion of entire “words or sentences” of the genetic code, and they appeared in a surprising variety. Additionally, the scientists found mutations from components of DNA that “copy and paste themselves” from their original location in the genome to another, called “jumping genes.”

Spontaneous structural mutations occur in nearly 20 percent of healthy individuals, the scientist clarified in their study. People diagnosed with autism do not necessarily have more mutations, but their mutations are “more likely to disrupt genes involved in brain development,” said senior author Jonathan Sebat, PhD.

“[The mutations] point us to a biochemical pathway that may be important for social development,” said first author William Brandler, PhD. “In the future, discoveries like this could lead to more effective personalized treatments for autism."
 

Source: University of California, San Diego
About the Author
  • I am a scientific journalist and enthusiast, especially in the realm of biomedicine. I am passionate about conveying the truth in scientific phenomena and subsequently improving health and public awareness. Sometimes scientific research needs a translator to effectively communicate the scientific jargon present in significant findings. I plan to be that translating communicator, and I hope to decrease the spread of misrepresented scientific phenomena! Check out my science blog: ScienceKara.com.
You May Also Like
SEP 11, 2020
Neuroscience
Children Use Both Sides of Brain for Language, Unlike Adults
SEP 11, 2020
Children Use Both Sides of Brain for Language, Unlike Adults
Researchers from Georgetown University medical center have found that young children use both the right and left sides o ...
OCT 21, 2020
Neuroscience
New Theory Says Consciousness Arises from Electromagnetic Energy
OCT 21, 2020
New Theory Says Consciousness Arises from Electromagnetic Energy
Professor Johnjoe McFadden, a researcher from the Univerity of Surrey in the UK, has proposed a new theory for conscious ...
OCT 22, 2020
Neuroscience
Placebos Impact Brain Patterns for Emotional Processing
OCT 22, 2020
Placebos Impact Brain Patterns for Emotional Processing
Researchers from Michigan State University have found that placebos reduce markers of emotional distress- even when the ...
NOV 15, 2020
Neuroscience
Researchers Confirm Link Between Alzheimer's and Gut Bacteria
NOV 15, 2020
Researchers Confirm Link Between Alzheimer's and Gut Bacteria
Researchers from the University of Geneva in Switzerland have confirmed the link between an imbalance of gut bacteria an ...
NOV 20, 2020
Neuroscience
The Link Between Sleep Apnea and Autoimmune Disease
NOV 20, 2020
The Link Between Sleep Apnea and Autoimmune Disease
Researchers from the University of Georgia have found more evidence for the link between obstructive sleep apnea (OSA) a ...
NOV 24, 2020
Neuroscience
Computer Mouse Movements Predict Risk-Taking Behavior
NOV 24, 2020
Computer Mouse Movements Predict Risk-Taking Behavior
Researchers from Ohio State University have found a way to measure people’s appetite for risk-taking behavior from ...
Loading Comments...