Researchers have found a gene that predisposes people to both autism and epilepsy. This discovery is a world first, which is rather exciting. It could explain why many children and adults who have been diagnosed with autism also suffer from epilepsy.
A study was done by researchers from the CHUM Research Centre in Montreal, Canada. They focused on one, large, French-Canadian family. This family had several members who were suffering from epilepsy. Some of these people also had autism, and some did not. Another part of this study analyzed data taken from two groups of individuals from Quebec.
The researchers were looking for the genes for epilepsy. Instead, they discovered genetic information that connected to autism. There is a gene called the synapsin gene (SYN1). Researchers found that all of the people who were part of the French-Canadian family in the study had a severe mutation in their SYN1 gene. When the researchers looked at the data from the other two groups in the study. It turned out that 1% of the people in those groups who were autistic had the same SYN1 mutation as did the people from the French-Canadian family in the study. 3.5% of the people from the two groups had the same SYN1 mutation, and those people also had epilepsy. Some of the people who had the SYN1 mutation had both autism, and epilepsy.
This is not the first study to find a gene that connects to autism. However, it is the first study to find a genetic mutation that is present in both people who are autistic and people who have epilepsy. It is the first time that this particular genetic mutation has been linked to epilepsy. Around one third of people who have autism will also have epilepsy.
Now that this genetic mutation has been discovered, it may be possible, in the future, for couples who are planning children to be screened for this genetic mutation. There is also the potential that this study can lead to more studies that will help scientists to learn more about brain pathology. That, in turn, could possibly lead to new treatments for both epilepsy and autism.
Image by Anders Sandberg on Flickr