The molecular basis of mitochondrial disorders
Mitochondrial disorders with an incidence less than 1:5000 represent genetically heterogenous group of extremely rare metabolic diseases. Study of ethiopathogenesis of these conditions in patient derived cell lines or other cellular models provide us also an important information about
a role of individual proteins in oxidative phosphorylation and funtcion of mitochondria in physiological state.

Project co-ordinator: Markéta Tesařová, Hana Hansíková

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OXPHOS biogenesis during prenatal and early postnatal development
A fully functional mitochondrial energetic metabolism with the adequate ATP provision is important for the successful adaptation to the extra-uterine life. In the tissues of Rattus Norvegicus we study both expressional and functional changes of the OXPHOS during prenatal and postnatal development.

Project co-ordinator: Jana Křížová, Markéta Tesařová

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Mitochondrial ATP-dependent proteases and their role in OXPHOS complexes biogenesis
The recognition and removal of damaged mitochondrial proteins is accomplished by evolutionary conserved mitochondrial ATP-dependent proteases. Four such complexes were identified, for some of them their mitochondrial substrates, accessory proteins or regulation are unknown. To further characterise molecular mechanisms of mitochondrial protein homeostasis maintenance and precise role of individual proteins in this process human derived cell models are used.

Project co-ordinator: Lukáš Stibůrek

 

OXPHOS deficiency in the pathogenesis in Huntington disease
It has been known that altered function of oxidative phosphorylation complexes is present in the tissues of patients with Huntington disesaes. In colaboration with Department of Neurology and Institute of Animal Physiology and Genetics AS CR, we study changes in biogenesis and function of oxidative phosphorylation during development of the HD clinical phenotype in patient derived cell lines and minipig animal model with the aim to elucidate the exact role of altered mitochondrial function in the ethiopathogenesis of the HD.

Project co-ordinator: Hana Hansíková

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Congenital disorders of glycosylation
Similar to mitochondrial disorders, CDG represent both clinically and genetically heterogeneous group of extremely rare diseases. We are foccused on development of new screening techniques for more efficient and further categorisation of patients with suspission on CDG syndrome. Furthermore, with use of patient derived cell line we analysed pathogenesis of selected rare types of CDG syndromes.

Project co-ordinator: Hana Hansíková, Nina Ondrušková

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Clinical research
Department of Pediatrics and Adolescent Medicine provides clinical care for patient with metabolic disorders with special attention to mitochondrial disorders and congenital disorders of glycosylation from Czech Republic and from Slovakia (laboratory diagnostics, consultations of the disease manangement). It allows for selected group of patients (TMEM70 deficiency, MELAS syndrome, and others) both retrospective and prospective clinical studies with the aim to improve care about these patients and implement novel trends in therapy. The Laboratory for Study of Mitochondrial Disorders is an integral part of this research.

Project co-ordinator: Jiří ZemanTomáš Honzík

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