Molecular ‘Rosetta Stone’ could provide insight into autism

autism

Distinct sets of genetic defects in a single neuronal protein can lead either to infantile epilepsy or to autism spectrum disorders (ASDs), depending on whether the respective mutations boost the protein’s function or sabotage it, according to a new study by UC San Francisco researchers.

In studies published in 2012, 2014, and 2015, [researchers] found that de novo genetic mutations — spontaneous mutations not inherited from parents — play a role in the development of ASDs in at least 10 percent of all cases of autism, many more than previously recognized.

These studies led to the identification of 65 genes with a strong likelihood of contributing to autism when mutated and confirmed SCN2A as one of the top hits.

This study represents a first step in understanding how SCN2A mutations lead to autism and developmental delay….

“These findings solidify SCN2A’s status as one of the most important genes in autism,” said [neurophysiologist Kevin Bender, an assistant professor of neurology]. “They give us a place to start exploring exactly how changes in early brain development lead to this condition.”

[The study can be found here.]

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: Autism Researchers Discover Genetic ‘Rosetta Stone’

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