Women are less likely to be diagnosed with autism spectrum disorder than men. So researchers have not spent much time studying the autism genetic imprint in women.
Scientists have found a gene that play a role in severe autism in women and in some men as well. The findings of the study could motivate more researchers to study the disorder in families in which multiple women are affected by autism.
Tychele Turner, Autism researcher, University of Washington, said, " Women experience something called the "female protective effect," which means they need either more severe mutations or many more than men to develop the disorder. Studying autism in women could be very beneficial for autism research as a whole. Women might be more useful to reveal which mutations cause severe autism."
Researchers analyzed genes of 13 unrelated women with severe autism, who also have relatives affected by the disorder. They discovered CTNND2 gene has more mutations than one would expect to see in someone without autism, which led the researchers to conclude that the gene probably played a role.
The genetics of 13 girls were analyzed and compared to genetic data from thousands of other people, gathered from public database.
Turner said, "We assessed thousands of additional patients to determine if the genetic signal we found was real. The additional patients showed that, in general, people with autism tend to have mutations in this gene more often than people without autism."
The researchers tinkered with the genes of zebrafish to make the animals express the mutations. The findings suggest that the mutations caused problems in a biological pathway that has previously been associated with autism.
The findings of this study will serve as a basis for the study of mechanism that lead to autism in women. Further research on CTNND2 gene and its function could develop gene therapies or drug therapies down the line.