Functional analysis of newly identified DNA variants in genes responsible for cystic fibrosis and fenylketonuria        


Principal Investigator: Ľudevít Kadáši
Principal Investigator at CBs IMPG SAS: Ľubica Lacinová

Duration: October 2013 – December 2016
Coordinating Organization: Biomedical Research Center – Institute of Virology SAS, Bratislava


Cystic fibrosis and phenylketonuria represent the most frequent and serious genetic disorders in the population of Slovakia. Both disorders belong to the group of classical monogenic disorders, where pathology is due to the presence of two mutations from the broad scale of mutations in the CFTR (cystic fibrosis) and PAH (phenylketonuria) genes. Different populations are characteristic with different mutation scale from the more than 1800 mutations in the CFTR, and more than 500 ones known in the PAH gene. Molecular analysis revealed in the population of Slovakia many known mutations in these genes, however, about 10 % for the CFTR gene and 4 % for the PAH gene of them represents novel DNA variants. Given the fact that the impact of DNA variants on the function of protein is not always predictable from the amino acid change, it is desirable to study this impact by further analyses. This project is aimed at functional analysis of newly identified DNA variants in the CFTR and PAH genes, by means of expression analysis, measuring the functionality and activity of proteins in prokaryotic and eukaryotic systems, in order to predict their pathologic potential for diagnostic purposes.


cystic fibrosis, CFTR, fenylketonuria, PAH