EN
Tuberin (TSC2) is one of the proteins involved in autism spectrum disorders’ pathogenesis. Together with hamartin (TSC1), tuberin is responsible for protein synthesis, cellular growth and proliferation. Lack of these proteins causes tumors, hamartomas, observed in the central nervous system of affected patients. Additionally 25–60% of patients with tuberous sclerosis complex develop autism spectrum disorders. The highest concentration of tuberin has been noted in the cerebellum, particularly in the Purkinje cells. Purkinje cells may participate in the process of emission of ultrasounds (ultrasonic vocalization – USV), which can be analyzed as parameter of early stages of intercommunication development. Expression of tuberin in the cerebellar Purkinje cells was switched-of by means of the Cre/loxP transgenic technolgy. The study involved two groups of mice: homozygous for the mutation TSC2Cre-/- and control group TSC2Cre+/+. All the mice were introduced into the study at the age of 2 days and the USV was recorded every two days until the age of 14 days. To record and analyze the ultrasounds we used the Ultrasound Recording Device and software by Avisoft Bioacustics. Preliminary data suggest subtle alterations of USV, but more experiment is needed to support first observations.