Two new studies published last week in the journal Nature have identified many genes that appear to be linked to autism spectrum disorder (ASD).
We have long known there is a strong genetic component to autism, but little was understood about exactly which genes are implicated and how they work to cause this condition – which can be severely disabling and has seen a dramatic increase in recent years.
These latest studies out of the University of California have now identified 60 genes with more than 90 per cent chance of increasing the risk of ASD. This is a significant advance in understanding as earlier studies found only 11 such genes.
Scientists from the California studies say their findings have enabled a better understanding of the nature of genetic mutations associated with ASD.
Genes uncovered in these studies seem to cluster around three sets of biological functions: development of synapses important for communication between nerves; the creation of genetic instructions; and DNA packaging within cells. Each of these areas has the potential to cause traits commonly associated with autism.
Mostly, this new research represents an improvement in our understanding of the biology underpinning autism. When we have a better understanding of what is taking place within the body, we are closer to having the ability to create effective treatments for it. To date, many people with autism spectrum disorder have limited success with available therapies. A breakthrough could be a huge step forward.
Unlocking the genetics behind autism also provides hope for prevention. Researchers in these studies noted that some of the genes they identified were genes that are not passed from either parent but developed within the egg or sperm before conception. More research might help determine what environmental factors may cause those genes to mutate.
ASD affects one in every 165 children. It is a spectrum of conditions that affects brain development and function and tends to cause difficulties with communication and social interaction. It also results in unusual patterns of behaviour, sensory perception, activities and interests.
Symptoms can range from very mild to debilitating where individuals are virtually unable to communicate. To date, treatments with the most success include applied behaviour analysis and educational intervention – which have demonstrated effectiveness at improving global functioning and intellectual ability in young children with ASD.
I look forward to seeing what will come of the continued research into the genetic and biological underpinnings of this complicated set of disorders.
