Grant: Fellowship: Bisby (Prize)

Mitochondria are often described as the "powerhouses" of cells, as they provide energy for cellular processes. These important structures possess their own DNA and mutations of mitochondrial DNA have been linked to a wide variety of mitochondrial diseases ("mitochondrial cytopathies"). In the field of ophthalmology, it is becoming increasingly recognized that diseases associated with mitochondrial DNA mutations can have a significant impact on the eye. For example, patients with mitochondrial disease may experience problems moving their eyes or eyelids. Alternatively, by affecting the nerve that carries visual information from the eyeball to the brain, other patients may notice significant changes in their vision. This study will focus on the latter and aims to clarify precisely how mitochondrial DNA mutations lead to nerve cell death and vision loss. Specifically, this study will examine the cellular consequences of mitochondrial DNA mutations by obtaining skin samples from individuals with mitochondrial DNA mutations that have optic nerve manifestations of their illness. Using advanced imaging and biochemical techniques, we will examine carefully mitochondrial morphology and function and compare findings to tissue samples obtained from healthy control patients. In doing so, we will help to define the biochemical pathways that link mutations in mitochondrial DNA to optic nerve dysfunction and vision loss. Ultimately, we hope that these experiments will provide targets for effective treatments of these complex conditions.