When nerve cells can't make contact ( s are accordingly more drastic than wit...)

When nerve cells can't make contact

s are accordingly more drastic than with autistic patients, who only have one mutated neuroligin gene. Without any neuroligins, the function of the nervous system breaks down completely and the mutant animals die immediately after birth. However, their nerve cells can be examined in detail. According to Brose, "they deliver important findings not only for brain research in general, but also for the possible causes of autism. Our investigations show that the neuroligins regulate the maturation of the synapses. They ensure that there are sufficient receptor proteins on the synaptic membrane of the receiving cell."

What was initially a pure basic research project has consequently acquired direct relevance to medicine. "What we see in our neuroligin mutants is a more intensified form of the malfunction that occurs in the brain of autistic people," says Brose. "I believe that autism is a disease of the synapses, a synaptopathy." The Max Planck researchers in Göttingen now want to carry out an analysis of the behavioural biology of mutant mice lacking not all of the neuroligins, but just neuroligin-3 or neuroligin-4, as is the case of autistic patients with neuroligin mutations. The relevant mutant mice have been available in the laboratory for a long time, "but we only started analyzing their behaviour with specialists a few months ago," says Brose. The first results look most promising - neuroligin-4 mutant mice obviously have disturbed social and anxiety behaviour. "If we succeed in measuring robust, autism-relevant behavioural changes in our mutant mice, then at least the step to experimental diagnosis and therapy in the animal model will be possible."

From the point of view of the geneticist, the scientists in Göttingen have the best known animal model for autism worldwide. However, there is a limitation: only very few cases of autism are caused by neuroligin mutations and, with few exceptions, nobody knows which genetic defects are present in the a
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Source:Max-Planck-Gesellschaft

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( s are accordingly more drastic than wit...)When nerve cells can't make contact