Protective mechanism of female genes in autism

Female genes have more mutations - but there are fewer female autists

28/02/2014

Autism describes a developmental disorder that severely restricts sufferers to their social lives, depending on their severity. Some autistic people have special abilities and island talents, others hardly speak and are completely introspective. Autists lack the ability to empathize with other people. That's why they communicate in their own unique way. Researchers have long observed that there are far more male than female autistic individuals. A new study now points to a female protective effect that could be responsible for women's infrequent symptoms.

Female protective mechanism could protect against autism and other developmental disorders
According to scientific research, autism occurs four times more frequently in boys than in girls. In severe autism, even seven times more boys are affected. Overall, according to another study, the number of male patients treated for mental disabilities is 30 to 50 percent higher than in women. „Increased male prevalence has been documented for various neurodevelopmental disorders suggesting a 'female protective mechanism'“, the researchers write in the journal „American Journal of Human Genetics“. Accordingly, girls and women could have a higher threshold, from which autistic traits become noticeable.

„This fact is amazing, "quotes „Time online“ the geneticist Sébastien Jacquemont from the University of Lausanne in Switzerland. „Put simply, women in general function much better than men in their brain development if they are affected by a similar mutation. "Jacquemont and his colleagues came across the protective effect in the genome when they investigated the mutations responsible for developmental disorders and autism. Researchers analyzed the genome of 15,585 patients with a diagnosed developmental disorder, as well as DNA samples from 762 autistic families. „It turns out that, on average, women with developmental disorders not only have more genetic mutations than men with the same diagnosis, but also more severe mutations, "said Joris Veltman, a genetics professor at Radboud University Nijmegen in the Netherlands, opposite Online Veltman himself was not involved in the study, but is convinced of the results of his colleagues.

Changes in genes favor developmental disorders such as autism
Some genes do not appear in two identical copies in the genome as normal, but are present three, four, five or even more frequently. Others are not included or only once. These changes can promote diseases. The study found that the harmful mutations were three times more common in female autistin than in males. Many researchers have already tried to solve this puzzle. No one has yet come up with a conclusive explanation.

Also in the DNA of mothers with autistic children and those who suffer from other developmental disorders, more mutations are found than in the genetic material of the fathers. „It is unclear why there is this almost 'black and white' phenomenon among women, "says Veltman, adding that some are protected from developmental disability and others have some form of autism combined with other mental disabilities. „Science is not yet able to understand subtle genetic variations and their interaction. "The female sex seems to have a significant impact. „The observation that especially mothers without findings pass harmful mutations on to their children underpins that, "says Veltman. (Nr)