Study reveals there are 102 DNA mutations in autism

Autism breakthrough as scientists discover 37 new genes that put children at risk of the disorder

  • Researchers analysed more than 35,000 DNA samples from autism patients
  • Scientists at Mount Sinai Health System in New York City scoured for mutations
  • Larger sample size allowed team to increase number of genes from 65 in to 102

Scientists are one step closer to unlocking the riddle of autism after discovering 37 new genes linked to the disorder.

Autism and related conditions such as Asperger’s syndrome affect more than one in 100 British children – ten times more than just 30 years ago. In the US, it is one in 68.

But despite the rise, the condition is still little understood and getting a diagnosis can be lengthy and stressful.

Families are often forced to attend multiple hospital appointments and have children put through several psychological tests. 

While drugs can be given to control symptoms such as aggression or hyperactivity, there is no cure.

But the breakthrough opens the door to new tests and treatments.

In the largest ever study of its kind, an international team of researchers collected and analysed more than 35,000 DNA samples from autism patients at 50 hospitals around the world.

Scientists are one step closer to unlocking the riddle of autism after discovering more than a hundred new genes linked to the condition

Scientists at the Mount Sinai Health System in New York City then scoured the DNA for mutations.

They identified 102 gene mutations that impact brain development or function, and that both types of disruptions can result in autism.

According to the Centers for Disease Control and Prevention, people with autism have trouble with social, emotional and communication skills that usually develop before the age of three and last throughout a person’s life. 

Specific signs of autism include: 

  • Reactions to smell, taste, look, feel or sound are unusual
  • Difficulty adapting to changes in routine
  • Unable to repeat or echo what is said to them
  • Difficulty expressing desires using words or motions
  • Unable to discuss their own feelings or other people’s
  • Difficulty with acts of affection like hugging
  • Prefer to be alone and avoid eye contact
  • Difficulty relating to other people
  • Unable to point at objects or look at objects when others point to them

The larger sample size of the study allowed the research team to increase the number of key genes from 65 in 2015 to 102 today.

Professor Joseph Buxbaum, director of the Seaver Autism Centre for Research and Treatment at Mount Sinai, said new drugs will be developed based on the findings, published in the medical journal Cell.

Professor Buxbaum, a world renowned psychiatrist, said: ‘This is a landmark study, both for its size and for the large international collaborative effort it required.

‘With these identified genes we can begin to understand what brain changes underlie ASD [autism spectrum disorder] and begin to consider novel treatment approaches.’

Despite the finding, the research team suggests as many as 300 genes may be involved in causing autism. 

Many sufferers are able to lead relatively normal lives while others require support throughout. Those with the condition find it difficult to socialise and communicate with others.

Obtaining such a large sample was made possible by the Autism Sequencing Consortium (ASC), an international group of scientists who share ASD samples and data.

The discovery of so many genes which all play a small part in the disease may help explain why the disorder manifests itself differently in individuals.

Source: Read Full Article