Dr Monika Olahova
Biography I am a post-doctoral research associate at the Wellcome Centre for Mitochondrial Research working with Prof. Robert Taylor. I am investigating the molecular pathology of novel mitochondrial disease genes identified by next generation sequencing technologies.
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.
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