A consortium of hundreds of scientists said on Wednesday they had uncovered dozens of previously unknown genetic mutations that contribute to autism in children.
Some of these rare DNA glitches are inherited from parents. But many, the researchers discovered, arise for the first time in the person with autism.
“This suggests that tiny genetic errors may occur during formation of the parents’ eggs and sperm, and these variations are copied during creation of their child’s DNA,” said co-author Daniel Geschwind, a professor at the University of California at Los Angeles (UCLA).
Autism and related brain disorders affect up to 10 out of every 1,000 individuals.
Symptoms are life-long and can vary widely, but often include impaired social skills, repetitive behaviors, difficulty in expressing one’s emotions and an aversion to physical intimacy. There is no known cure.
Harnessing massive computing power spread across 60 institutes worldwide, researchers combed through the DNA of nearly 1,000 school-age kids with autism from the US, Canada and Europe.
Over three years, they hunted for stretches of genetic code that were either abnormally absent or duplicated, and that might give rise to some of the condition’s signature symptoms.
The results were compared to the genomes of some 1,300 children not suffering from the condition.
These missing or excess blocks of DNA showed up approximately 20 percent more frequently in the children with autism, according to the study, published in the British journal Nature.
The findings also confirm earlier reports from smaller samples that some youngsters carry so-called “private genetic mutations.”
“Every child showed a different disturbance in a different gene,” UCLA’s Stanley Nelson said.
This uniqueness may make it more difficult to design drug therapies that work across a wide range of autistic spectrum disorders, the study said.
Despite the singular genetic profile, however, two categories of genes were affected more frequently than others: those coding for the neural cell development, and those involved in the signaling or “communication” between cells.
Many of these same genes are thought to play a role in other neuro-development disorders.
There may even be some overlap with conditions such as epilepsy and schizophrenia, the researchers said.
‘IN A DIFFERENT PLACE’: The envoy first visited Shanghai, where he attended a Chinese basketball playoff match, and is to meet top officials in Beijing tomorrow US Secretary of State Antony Blinken yesterday arrived in China on his second visit in a year as the US ramps up pressure on its rival over its support for Russia while also seeking to manage tensions with Beijing. The US diplomat tomorrow is to meet China’s top brass in Beijing, where he is also expected to plead for restraint as Taiwan inaugurates president-elect William Lai (賴清德), and to raise US concerns on Chinese trade practices. However, Blinken is also seeking to stabilize ties, with tensions between the world’s two largest economies easing since his previous visit in June last year. At the
Nearly half of China’s major cities are suffering “moderate to severe” levels of subsidence, putting millions of people at risk of flooding, especially as sea levels rise, according to a study of nationwide satellite data released yesterday. The authors of the paper, published by the journal Science, found that 45 percent of China’s urban land was sinking faster than 3mm per year, with 16 percent at more than 10mm per year, driven not only by declining water tables, but also the sheer weight of the built environment. With China’s urban population already in excess of 900 million people, “even a small portion
UNSETTLING IMAGES: The scene took place in front of TV crews covering the Trump trial, with a CNN anchor calling it an ‘emotional and unbelievably disturbing moment’ A man who doused himself in an accelerant and set himself on fire outside the courthouse where former US president Donald Trump is on trial has died, police said yesterday. The New York City Police Department (NYPD) said the man was declared dead by staff at an area hospital. The man was in Collect Pond Park at about 1:30pm on Friday when he took out pamphlets espousing conspiracy theories, tossed them around, then doused himself in an accelerant and set himself on fire, officials and witnesses said. A large number of police officers were nearby when it happened. Some officers and bystanders rushed
Beijing is continuing to commit genocide and crimes against humanity against Uyghurs and other Muslim minorities in its western Xinjiang province, U.S. Secretary of State Antony Blinken said in a report published on Monday, ahead of his planned visit to China this week. The State Department’s annual human rights report, which documents abuses recorded all over the world during the previous calendar year, repeated language from previous years on the treatment of Muslims in Xinjiang, but the publication raises the issue ahead of delicate talks, including on the war in Ukraine and global trade, between the top U.S. diplomat and Chinese