Institute of Molecular Biology
Topic
Characterization of mutations of the human cardiac ryanodine receptor 2 associated with cardiac arrhythmias
PhD. program
Molecular Biology, Biochemistry, Genetics
Name of the supervisor
Mgr. Vladena Bauerová, PhD.
Contact:
Receiving school
Commenius University, Faculty of Natural Sciences
Annotation
Ryanodine receptor 2 (RyR2) is the largest known multidomain calcium channel; it is located in the sarcoplasmic reticulum membrane of cardiomyocytes. The main role of RyR2 is to regulate the concentration of Ca2+ in cardiomyocytes, thereby ensuring regular cardiac activity. Disorders of this regulation, which are caused by mutations in the RyR2 gene, cause several cardiac arrhythmias. The doctoral thesis is focused on the study of the structure-function relationship the of human RyR2. The aim of the work is to heterologously express hRyR2 domains in native and mutant forms, and to purify and characterize them using biochemical, biophysical and structural methods in order to determine their stability, identify the binding of modulators and to determine their tertiary structure. The techniques will be implemented at the IMB SAS or in cooperation with foreign scientific institutions.