Laboratory of Biochemical Genetics

Head of laboratory: 

prof. Viktor Kožich, MD, Ph.D.

Laboratory members:

Aleš Hnízda, Ph.D. Roman Vozdek, Ph.D.
Jakub Krijt, MSc. Ladislava Chromá
Petra Melenovská, MSc. Blanka Stibůrková, Ph.D.
Jitka Sokolová, MSc. Olha Hurba

Research Group of Sulfur amino acid metabolism

Group leader: prof. Viktor Kožich, MD, Ph.D.

The sulfur amino acid metabolism group has a long-term interest in studying metabolism of sulfur containing compounds - namely of homocysteine, other sulfur amino acids and of hydrogen sulphide - and related B-vitamins under various physiological and pathological circumstances. We aim at understanding the structure and function of relevant genes and their corresponding enzymes, at comprehending the physiological regulatory processes and at dissecting molecular mechanisms of selected diseases (namely of rare diseases - homocystinurias as well as of common diseases such as artherosclerosis and related metabolic syndrome). Our group has contributed to the understanding of the pathogenicity of mutations in cystathionine beta-synthase deficiency namely on the role of misfolding and its possible correction by chaperones. Lately we discovered the function and role of six genes in sulfur amino-acid metabolism in C. elegans and we have participated in morphological and biochemical studies with several mouse models of homocystinuria. We are using a wide spectrum of biophysical, analytical, genetic, morphologic and epidemiological approaches to study patients, patient derived samples as well as model systems including tissue cultures. The research of our group resulted in the development of novel diagnostic procedures and may become important for exploring new therapeutic strategies of sulfur amino acid disorders.

Collaborations-extramural: Prof. Jan P. Kraus, University of Colorado, Aurora, USA; Michal Pravenec, PhD, Institute of Physiology, Academy of Sciences, Prague; Prof. Brian Fowler and Prof. Matthias Baumgartner, University Childrens Hospital Zurich; Markéta Pavlíková, MSc, Prof. Jana Zvárová, PhD.

Research Group of Uric Acid metabolism

Group leader: Blanka Stibůrková, Ph.D.

The group is focused on studies of molecular basis of selected pathologies of purine and pyrimidine metabolism, especially uric acid metabolism. We are interested in pathogenetic mechanisms of primary hypo/hyperuricemia, including uric acid excretion systems, urate transporters, analysis of correlations between uric acid levels and metabolic syndrome or renal disease.

The group employs wide spectrum of biophysical, analytical, genetic, morphological and epidemiologic approaches both in healthy population and patients. It characterize normal and mutant enzymes expressed in heterologous systems and uses various model systems including tissue cultures and Xenopus laevis.

Grant support:


IGA MZ (2014-2016)

Functional characterization of SLC22A12 and SLC2A9 allelic variants in Czech population


MŠMT (2013-2015)

Molecular pathology and genetic diagnostics of renal hypouricemia


MŠMT (2014-2015)

Hydrogen sulfide metabolism in homocystinurias


IGA MZ(2009-2011)

Role of folates in pathogenesis of metabolic syndrom


IGA MZ (2011-2013)

Optimalization of Laboratory Newborn Screening of Inherited Metabolic Disorders


IGA MZ (2013-2015)

Plasma activities of intracellular enzymes in selected inborn errors of metabolism - suitability for diagnosis and for predicting responsiveness to therapy


EAHC (2013-2016)

European Network and Registry for Homocystinurias and Methylation Defects

Projects marked with an * are carried out in collaboration with main investigators from other institutions.