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.
DOUBLE-MURDER CASE: The officer told the dispatcher he would check the locations of the callers, but instead headed to a pizzeria, remaining there for about an hour A New Jersey officer has been charged with misconduct after prosecutors said he did not quickly respond to and properly investigate reports of a shooting that turned out to be a double murder, instead allegedly stopping at an ATM and pizzeria. Franklin Township Police Sergeant Kevin Bollaro was the on-duty officer on the evening of Aug. 1, when police received 911 calls reporting gunshots and screaming in Pittstown, about 96km from Manhattan in central New Jersey, Hunterdon County Prosecutor Renee Robeson’s office said. However, rather than responding immediately, prosecutors said GPS data and surveillance video showed Bollaro drove about 3km
‘MOTHER’ OF THAILAND: In her glamorous heyday in the 1960s, former Thai queen Sirikit mingled with US presidents and superstars such as Elvis Presley The year-long funeral ceremony of former Thai queen Sirikit started yesterday, with grieving royalists set to salute the procession bringing her body to lie in state at Bangkok’s Grand Palace. Members of the royal family are venerated in Thailand, treated by many as semi-divine figures, and lavished with glowing media coverage and gold-adorned portraits hanging in public spaces and private homes nationwide. Sirikit, the mother of Thai King Vajiralongkorn and widow of the nation’s longest-reigning monarch, died late on Friday at the age of 93. Black-and-white tributes to the royal matriarch are being beamed onto towering digital advertizing billboards, on
Tens of thousands of people on Saturday took to the streets of Spain’s eastern city of Valencia to mark the first anniversary of floods that killed 229 people and to denounce the handling of the disaster. Demonstrators, many carrying photos of the victims, called on regional government head Carlos Mazon to resign over what they said was the slow response to one of Europe’s deadliest natural disasters in decades. “People are still really angry,” said Rosa Cerros, a 42-year-old government worker who took part with her husband and two young daughters. “Why weren’t people evacuated? Its incomprehensible,” she said. Mazon’s
POWER ABUSE WORRY: Some people warned that the broad language of the treaty could lead to overreach by authorities and enable the repression of government critics Countries signed their first UN treaty targeting cybercrime in Hanoi yesterday, despite opposition from an unlikely band of tech companies and rights groups warning of expanded state surveillance. The new global legal framework aims to bolster international cooperation to fight digital crimes, from child pornography to transnational cyberscams and money laundering. More than 60 countries signed the declaration, which means it would go into force once ratified by those states. UN Secretary-General Antonio Guterres described the signing as an “important milestone,” and that it was “only the beginning.” “Every day, sophisticated scams destroy families, steal migrants and drain billions of dollars from our economy...
RSS