Mutation in autism as scientists find 70 genes ‘strongly linked’ to the condition
- US researchers studied the DNA of 150,000 people, 20,000 of whom had autism
- Identify biological changes in the brain that contribute to autism
- 70 genetic variants could pave the way for new tests and treatments
Scientists have discovered dozens of genes closely linked to autism, in what could be a breakthrough.
The researchers hope that more than 70 newly identified genetic variants could pave the way for new tests and treatments for the condition.
Autism and related conditions such as Asperger’s affect more than 1 in 100 British children and 1 in 44 American youths – 10 times more than 30 years ago.
Despite the rise, the condition is still largely poorly understood and getting a diagnosis can be long and stressful for patients and their families.
Families are often forced to attend multiple hospital appointments and have children undergo many psychological tests.
While medications can be given to control symptoms such as aggressiveness or hyperactivity, there is no cure.
In the largest study of its kind, US researchers looked at the DNA of 150,000 participants, 20,000 of whom had been diagnosed with autism.
They identified 72 genes closely related to the condition and hundreds more with more loose associations.
Scientists are one step closer to solving the autism mystery after discovering more than 100 new genes linked to the condition
It is hoped that the latest study published in natural geneticswill help future research teams narrow their focus.
“We know that many genes, when mutated, contribute to autism,” said study co-author Dr. Joseph Boxbaum, director of the Seaver Autism Research and Treatment Center at Mount Sinai in New York.
In this unprecedented study, we were able to combine multiple types of mutations in a wide range of samples to get a richer sense of the genes and genetic structure associated with autism.
“This is important because we now have more insights into the biology of the brain changes that underlie autism and more potential targets for treatment.”
The study used an autism group of 63,000 individuals, 20,000 of whom had the condition, and a developmental delay group of 91,000 people.
Statistical analysis revealed 72 genes strongly associated with autism, as well as 252 other genes that are highly likely to be involved in this condition.
Genes associated with autism tend to affect mature neurons – which, unlike other neurons, are no longer able to divide and appear early in development.
For comparison, those related to developmental delays are likely to be active during neuronal development, although the two can ‘overlap’.
Buxbaum said a “precision medicine approach” to autism that depends on a person’s genes is likely to be needed.
Dr Buxbaum said people should be genetically tested for autism to help develop new drugs ‘that will benefit families and individuals at risk for autism spectrum disorder’.
He added: “The more we can develop treatments, based on the targets set in these genetic findings, the more people we have the potential to help, which could have a significant impact in treating autism and developmental delays worldwide.”
His team has pooled data from autism research initiatives, such as the Autism Sequencing Consortium, as well as MIT and Harvard University.
They examined the genomes of about 150,000 people, of whom 20,627 had autism.
In addition to the 72 genes that appear to be behind autism, they discovered another 250 genes that are also associated with the condition.
Autism refers to a wide range of conditions characterized by challenges in social skills, repetitive behaviors, speech, and nonverbal communication.
What are the signs of autism?
Signs of autism in young children include:
- Doesn’t respond to their name
- Avoid contact with eyes
- Don’t smile when you smile at them
- They get very upset if they don’t like a particular taste, smell, or sound
- Repetitive movements, such as flapping their hands, moving their fingers, or shaking their bodies
- He doesn’t talk like other kids
- Repeating the same phrases
Signs of autism in older children include:
- Doesn’t seem to understand what other people are thinking or feeling
- They find it hard to say how they feel
- Likes a strict daily routine and gets very upset if it changes
- Having a very high interest in some topic or activity
- She gets very upset if you ask them to do something
- They find it difficult to make friends or prefer to be alone
- Taking things literally – for example, they may not understand phrases such as “break a leg”
Common signs of autism in adults include:
- You find it difficult to understand what other people are thinking or feeling
- Intense anxiety about social situations
- You find it difficult to make friends or prefer to be alone
- Appears rude, rude, or unintentionally uninteresting to others
- You find it hard to say how you feel
- Taking things literally – for example, you may not understand sarcasm or phrases like “break a leg”
- Follow the same routine every day and get too stressed if it changes
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