Thesis supervisor: Balázs Ördög
Web address (URL): http://web.med.u-szeged.hu/phcol/index_a.htm Location of studies (in Hungarian): Department of Pharmacology and Pharmacotherapy, Faculty of Medicine, University of Szeged Abbreviation of location of studies: ÁOK
Description of the research topic:
Inherited cardiac arrhythmias are caused by mutations of ion channel subunit-encoding genes. Unraveling of the genotype-phenotype correlations allows of the early diagnosis of subclinical carrier patients who are at risk of life-threatening arrhythmias, leads to better risk assesment and prognosis estimation and holds the promise for the identification of new therapeutical targets.
To this end, we pursue two research directions.
1) Patients with inherited cardiac arrhythmias are genotyped by a research group of the 2nd Department of Internal Medicine and Cardiology Center, University of Szeged, lead by Dr. Róbert Sepp. In our group, mutations with presently unknown pathophysiological role are functionally characterized by using heterologous expression systems and cellular electrophysiology techniques.
2) Symptoms in the Long QT syndrome type 5 (LQTS5) are characteristically mild and the penetrance of mutations is relatively low. This suggests that the manifestation of the phenotype is influenced by ion channel subunits of which physiological and pathophysiological role is not known. Based on the observations obtained from studies on the LQTS5 transgenic rabbit model, interactions among ion channel subunits are investigated by using heterologous expression systems and cellular electrophysiological techniques, focused particularly on the regulatory subunits of voltage-gated potassium channels.
Required language skills: English Further requirements: TDK munka
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