Research Grant

Natalia Gromak, PhD

Sir William Dunn School of Pathology, University of Oxford, Oxford, UK

Molecular function of senataxin protein, defective in ataxia oculomotor apraxia type 2 (AOA2), in regulation of human gene expression

Ataxia oculomotor apraxia type 2 is a neurodegenerative inherited disorder characterised by degeneration in the brain and spinal cord, causing progressive muscle weakness and finally atrophy. The gene mutated in this highly disabling disease encodes a protein called senataxin. So far the function of this protein in human cells is not well understood. In my research project, I will perform experiments in human cells which have been depleted of senataxin protein. This approach will allow me to gain an insight into the function of senataxin in humans. I will also investigate the behaviour and function of the mutant forms of senataxin protein, which have been detected in such patients. In particular, I will examine the correlation between disruption of the senataxin function in human gene expression and severity of the disease. I will also test if the lack of senataxin protein causes any secondary effects to occur in human cells.

My proposed research project will use innovative approaches in testing the role of senatixin in human gene expression. Therefore, I hope to make a significant impact on our understanding of cause of AOA2 disease and attract further funding for this research project. The long term goal of my work is to use the insights from this fundamental research project and translate them into data that is beneficial to patients.