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Information × Registration Number 0221U105253, 0118U007345 , R & D reports Title NCS protein signaling in CNS neurons in norm and pathology. popup.stage_title Head Bilan Pavlo V., Доктор біологічних наук Registration Date 17-06-2021 Organization Bogomolets Institute of Physiology of the National Academy of Sciences of Ukraine popup.description2  Primary dystonia (DYT2) is a neurological movement disorder syndrome in which prolonged and recurrent muscle contractions are observed, leading to repetitive uncontrolled movements or abnormal painful postures. We hypothesized that gene mutations in hippocalcin, a Neuronal Ca2+ Sensor protein, associated with primary DYT2 dystonia reduce the slow afterhyperpolarization in neurons of descending pathways from the motor cortex to motoneurons, and lead to their hyperexcitability and clinical manifestations of DYT2. We used genetic engineering to obtain and transfect wild-type hippocalcin and its DYT2 mutants in HEK-293 cells. We determined that one of the DYT2 mutants, N75K, was translocated to the plasma membrane with very low efficiency compared to wild-type protein in response to increases of cytosolic Ca2+ concentration. At this stage of the project, we tested the hypothesis that the N75K mutation, which is associated with primary DYT2 dystonia, significantly affects the signaling of this protein in rat hippocampal neurons. Decreased translocation of mutated N75K hippocalcin has been shown to be responsible for abnormal neuronal activity due to inhibition of slow afterhyperpolarization and, thus could potentially be responsible for the neurological symptoms that are characteristic for DYT2 dystonia. Product Description popup.authors Bagatska Olena V. Borisyuk Anna L. Hryshchenko Oleksiy V. Dovgan Olexandr V. Dromaretsky Andriy V. Kononenko Mykola I. Korohod Serhiy M. Kulagina Iryna B. Saftenko Olena E. Cherkas Volodymyr Р. Sheremet Eugene Y. popup.nrat_date 2021-06-17 Close