EN
Tuberous sclerosis complex (TSC) is one of the most frequent neurocutaneous disorders mostly present in pediatric patients. In TSC development we can observe neuropsychiatric signs with symptoms of epilepsy, mental retardation, and autism. Molecular mechanism of this disease involves two genes TSC1 and TSC2. Expression of both of them results in two proteins tuberin and hamartin negatively regulating mTOR signaling pathway. Mutations in TSC1 or TSC2 disturb their inhibitory function, what impairs the proliferation machinery downstream of mTOR. It results in growth of tumors (tubers) in many organs including the brain structure. Eker rat is a strain, that carries a spontaneously occurring germline mutation in the TSC2 gene. By the age of 1 year all TSC2Ek/- animals develop renal epithelial tumors. Tumors also appear in the brain tissue and make the strain a suitable model of autism spectrum disorders (ASD). One of the symptoms specific for autistic-like behaviors is the impaired communication between mother and child. Many rodent species including mouse and rat emit at the ultrasonic range (USV) sounds – a vocal communication between mother and offspring. This phenomenon is a good indicator of social interactions and alterations of the USV can be analyzed by means of specialized recording systems. In our study we attempted to check if there are any differences between TSC2Ek/- genotype newborns and wild type ones in patterns of USV using the standard isolation test. We analyzed sonographic structure of calls, number of calls per minute, duration of single call, etc.