I am a post-doctoral research associate in the Wellcome Trust Centre for Mitochondrial Research, working with Prof. Zofia Chrzanowska-Lightowlers, Prof. Robert Lightowlers and Prof. Robert Taylor. The aim of my project is to further understand the biology of mitochondrial gene expression, through characterising the molecular function of novel disease-associated proteins identified by whole exome sequencing.
My interest in this research area stems from the potential to uncover key mechanistic elements underpinning the pathogenesis of mitochondrial disorders, thereby yielding important insights into the development of new treatments to improve the health and quality of life of patients with mitochondrial diseases.
Principal Investigators: Professor Zofia Chrzanowska-Lightowlers,Professor Robert Lightowlers and Professor Rob Taylor
Other staff members involved: Professor Patrick Chinnery, Professor Rita Horvath and Dr Robert McFarland
The main focus of our research is to understand fundamental regulatory mechanisms of mitochondrial transcription and translation in human disease.
The dominant role of mitochondria is energy production in the form of adenosine-5′-triphosphate via the respiratory chain in the process called oxidative phosphorylation (OXPHOS). Mutations of genes encoding OXPHOS proteins and RNAs are a significant contributor to human mitochondrial diseases.
The human exome harbours about 85% of disease-causing mutations. The recent advances in next generation, whole-exome sequencing is allowing us to identify novel mitochondrial disease-causing genes in patients with well-defined, multiple OXPHOS deficiencies indicative of a defect in generalised mitochondrial translation. I am investigating the molecular pathology of newly-identified mitochondrial disease genes by utilizing cells and tissues derived from patients to fully characterise the defective mitochondrial phenotype.
At present there are no highly effective treatments for patients with mitochondrial respiratory chain disease. However, we hope that an increased understanding of the basic mechanistic aspects of mitochondrial gene expression will make a positive step towards the development of therapeutic strategies to prevent and treat these devastating diseases.
Sponsor/Funder: The Wellcome Trust
Crook-McMahon, H.M., Oláhová, M., Button, E.L., Winter, J.J. and Veal, E.A. Genome-wide screening identifies new genes required for stress-induced phase 2 detoxification gene expression in animals. BMC Biology 2014; 12(1):64
Oláhová, M., Haack, T.B., Alston, C.L., Houghton, J.A.C., He, L., Morris, A.A.M., Brown, G.K., McFarland, R., Chrzanowska-Lightowlers, Z.M.A., Lightowlers, R.N., Prokisch, H. and Taylor, R.W. A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. EJHG 2014; doi: 10.1038/ejhg.2014.214
Oláhová, M., Taylor, S.R., Khazaipoul, S., Wang, J., Morgan, B.A., Matsumoto, K., Blackwell, T.K. and Veal, E.A. A redox-sensitive peroxiredoxin that is important for longevity has tissue- and stress-specific roles in stress resistance. PNAS 2008; 105:19839-19844.
Veal, E.A. and Oláhová, M. Translating a low-sugar diet into a longer life by maintaining thioredoxin peroxidase activity of a peroxiredoxin. Molecular Cell 2011;43:699-701.
Certík, M., Breierová, E., Oláhová, M., Sajbidor, J. and Márová, I. Effect of selenium on lipid alternations in pigment-forming yeasts. Food Science and Biotechnology 2013;22:45-51.