As any person who’s casually perused these pages before has likely found, when it comes to cutting-edge autism research, genetics are by and far away the star of the show as far as researchers are concerned. While recent studies have confirmed that one’s environment can play a minor role in whether one is born with autism, seemingly every day a new study or research paper seems to appear that sheds greater light on the nature and cause of autism, thanks to genetic research.
This week, we’re taking a look at two recent and monumental studies, the first of which is a crucial study in terms of the future discoveries it will likely facilitate. Coming from Yale University, it shows that CHD8, a gene that is strongly linked to autism, acts as a master regulator in the developing human brain and controls the expression of many other genes. Many of the genes it targets have also been implicated in the disorder, the researchers found.
According to James P. Noonan of the Kavil Institute of Neuroscience at Yale, “Strong genetic evidence has identified a set of regulatory genes as being important for autism risk. But it has been difficult to gain insight into the biological mechanisms that might be perturbed because we couldn’t functionally connect these genes with each other. Now, we can.”
This builds on prior research from last year where scientists moved away from the gene-by-gene approach in which they literally assessed each and every gene in an individual with autism to attempt to identify which particular genes could be classified as problematic as regards to autism.
However, this approach began to yield too many suspects without enough concrete insight into what actually causes the disorder, and researchers have since been taking a broader look at one’s genetic make-up to see how genes work together and which of these partnerships can provide insight into autism. The study above revealed a set of regulatory genes as potential causes of autism, with the gene CHD8, which regulates gene expressions by modifying the way DNA interacts with histones (proteins present in the nucleus of every cell), emerging as a chief suspect due to its tendency to bind to certain cells that are important as regards to brain development in mammals.
Elsewhere, a study was just published in which researchers in Scotland analyzed the DNA of nearly 10,000 people and tested their thinking capacities, finding that, on average, those who had genes associated with autism tended to score higher on cognitive tests.
The researchers were quick to point out that by simply having autism-linked genes does not ensure that a person will develop autism. However, the findings did reinforce a previous study conducted in Australia in which 921 teens were tested and an association between autism-linked genes and intelligence was found.
According to one researcher, Nick Martin, “This study suggests genes for autism may actually confer, on average, a small intellectual advantage in those who carry them, provided they are not affected by autism.”
Although 70% of individuals with autism exhibit intellectual disabilities, some people with autism actually exhibit exceptional nonverbal intelligence. However, the researchers were quick to emphasize that the study simply revealed an association and not a direct cause-and-effect link.