Protective mechanism of female genes in autism

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

Autism describes a developmental disorder that severely restricts those affected depending on their severity in their social life. Some autistic people have special skills and island talents, others hardly speak and are completely self-contained. Autistic people lack the ability to empathize with other people. That is why they communicate in a very special way. Researchers have long observed that there are significantly more male and female autistic people. A new study now points to a female protective effect, which could be responsible for the fact that women suffer less from corresponding symptoms.

Female protection mechanism could protect against autism and other developmental disorders According to scientific studies, autism is four times more common in boys than in girls. In severe autism, seven times more boys are affected. Overall, another study found 30 to 50 percent more male patients treated for intellectual disabilities than women. "An increased male prevalence has been documented for various neurological development disorders, which indicates a 'female protective mechanism'," write the researchers in the journal "American Journal of Human Genetics". According to this, girls and women could have a higher threshold from which autistic traits become noticeable.

"This fact is astonishing," quotes "Zeit online" the geneticist Sébastien Jacquemont from the University Clinic of Lausanne in Switzerland. "To put it simply, women generally work much better than men in their brain development if they are affected by a similar mutation." Jacquemont and his colleagues came across the protective effects in the genome when they examined the mutations that are responsible for developmental disorders and autism. The researchers analyzed the genome of 15,585 patients diagnosed with a developmental disorder. There were also DNA samples from 762 families with autism. "It turns out that women with developmental disorders on average not only have more mutations in the genome than men with the same diagnosis, but also more serious mutations," said Joris Veltman, genetics professor at Radboud University Nijmegen in the Netherlands Online magazine Veltman 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 the genetic material in two identical copies as is usually the case, but are present three, four, five or even more frequently. Still others are not included at all or only once. These changes can promote illness. The study found that the damaging mutations were three times more common in female autists than in men. Many researchers have already attempted to solve this riddle. So far, however, no conclusive explanation has been found.

There is also more mutation in the DNA of mothers with autistic children and those who suffer from other developmental disorders than in the genes of their fathers. "It is unclear why there is this almost 'black-and-white phenomenon among women," reports Veltman. Some are protected from developmental disorders and others have a more severe form of autism in combination with other intellectual disabilities. "Science is not yet in able to understand subtle genetic variations and how they interact. " The female gender seems to have a significant influence. "The observation that especially mothers without a diagnosis pass on harmful mutations to their children underpins this," says Veltman. (Nr)

Image: Gabi Schoenemann /

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