Autism, intellectual delay could be result of spontaneous mutations

shutterstock
Credit: Shutterstock

Genetic variants across the genome contribute to about 8 percent of the risk for certain developmental conditions — much more than previously thought, according to a study published [September 16] in Nature.

The study looked at nearly 7,000 people who have a condition of brain development, such as intellectual disability, developmental delay or autism. The participants are all severely affected, suggesting that their conditions are the result of rare mutations, some of which are spontaneous or noninherited.

The new study found that common variants — those present in more than 5 percent of the population — are also important, however.

Scanning the sequences from the participants, the researchers found that certain combinations of a subset of common variants increase risk of the conditions. These combinations affect the severity of an individual’s condition and yield a ‘polygenic risk score’ for that individual; this may explain why the same rare mutation can have diverse effects in different individuals.

Related article:  Autistic children struggle with emotional control. It's even harder for girls, study says

The participants all have the hallmarks of conditions that arise from a rare, harmful mutation in an important gene. For example, most of them have additional complications, such as an inherited heart problem or bone defect.

[Jeffrey Barrett’s] team is trying to trace the pathways that their set of common variants affect. He says researchers may eventually be able to use an individual’s set of common variants to gauge her predisposition to specific conditions.

Read full, original post: Study links subset of genetic variants to autism, intellectual disability

Outbreak
Outbreak Daily Digest
Biotech Facts & Fallacies
Talking Biotech
Genetics Unzipped
Video: Test everyone – Slovakia goes its own way to control COVID

Video: Test everyone – Slovakia goes its own way to control COVID

As Europe sees record coronavirus cases and deaths, Slovakia is testing its entire adult population. WSJ's Drew Hinshaw explains how ...
mag insects image superjumbo v

Disaster interrupted: Which farming system better preserves insect populations: Organic or conventional?

A three-year run of fragmentary Armageddon-like studies had primed the journalism pumps and settled the media framing about the future ...
dead bee desolate city

Are we facing an ‘Insect Apocalypse’ caused by ‘intensive, industrial’ farming and agricultural chemicals? The media say yes; Science says ‘no’

The media call it the “Insect Apocalypse”. In the past three years, the phrase has become an accepted truth of ...
globalmethanebudget globalcarbonproject cropped x

Infographic: Cows cause climate change? Agriculture scientist says ‘belching bovines’ get too much blame

A recent interview by Caroline Stocks, a UK journalist who writes about food, agriculture and the environment, of air quality ...
organic hillside sweet corn x

Organic v conventional using GMOs: Which is the more sustainable farming?

Many consumers spend more for organic food to avoid genetically modified products in part because they believe that “industrial agriculture” ...
benjamin franklin x

Are most GMO safety studies funded by industry?

The assertion that biotech companies do the research and the government just signs off on it is false ...
favicon

Environmental Working Group: EWG challenges safety of GMOs, food pesticide residues

Known by some as the "Environmental Worrying Group," EWG lobbies for tighter GMO legislation and famously puts out annual "dirty dozen" list of fruits and ...
m hansen

Michael Hansen: Architect of Consumers Union ongoing anti-GMO campaign

Michael K. Hansen (born 1956) is thought by critics to be the prime mover behind the ongoing campaign against agricultural biotechnology at Consumer Reports. He is an ...
News on human & agricultural genetics and biotechnology delivered to your inbox.
Optional. Mail on special occasions.
Send this to a friend