Autism occurs four times more often in boys than girls. Scientists now suspect testosterone. The hormone turns on risk genes for autism. Autism affects about 1.5 percent of all children. It is noticeable that boys are affected four times as often as girls. So far these differences could not be explained. Now there is evidence that the hormone testosterone might play a role. Scientists at Heidelberg University Hospital have been able to show in human cells and brain areas of mice that the male sex hormone testosterone activates certain risk genes in the brain considerably more in the period before and after birth. So far, it has only been known that defects in these specific genes are a strong risk factor for the development of neuronal developmental disorders. Boys have a higher risk of autism "Now we have a first indication of why – at least in relation to an important group of the numerous risk genes – boys have a significantly higher risk of autism than girls," says senior author Prof. Dr. med. Gudrun Rappold, Director of the Department of Molecular Human Genetics. These risk genes are the genes called SHANK1, 2 and 3. The Heidelberg research group has been researching the SHANK genes for years, as defects in these sections of genetic information play an important role in the development of autism and other mental illnesses ,

Testosterone activates SHANK genes As the latest tests on brains of young male mice have now shown, these genes are increasingly translated into proteins and this is influenced by higher levels of the sex hormone testosterone. In brains of male mice, which naturally have more testosterone in the blood and brain, the researchers also found significantly higher levels of Shank proteins than in females. "We expect that the greater amount of shank protein in the male brain will increase the 'punch' of defects in the SHANK genes and therefore lead to a higher risk of autism," explains Rappold. The results of the work "Distinct Phenotypes of Shank2 Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients with SHANK2 Variants" have just been published in the journal "Frontiers in Molecular Neuroscience". Autism manifests itself early In autism, the development of nerve cells in the brain is disturbed. The symptoms are usually noticeable even in infancy and can vary greatly from patient to patient. Classically, autistic people have difficulty in social interaction, communication and perceptual processing and often show intense, special interests. Nevertheless, many autistic people are highly intelligent. ,


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