Science and Research
Our researchers investigate the role of mitochondrial function and genetics in neurodegenerative disorders, particularly glaucoma and other diseases of the optic nerve.
Our research suggests that the mitochondria – the batteries that supply the cells with energy – play a critical role in neurodegenerative diseases such as glaucoma, Parkinson’s disease and Alzheimer’s disease.
The mitochondrial DNA that we inherit was ‘matched’ in ancient humans with the nuclear genes needed for optimal mitochondrial function. We hypothesise that in modern humans, a ‘mismatching’ of the two genomes can contribute to age-related neurodegenerative diseases such as glaucoma and Parkinson’s disease.
Our team has specialist expertise in the analysis of mitochondrial function, together with unique expertise in mitochondrial transfer between cells (cybrid cells). This allows us to determine nuclear and mitochondrial DNA gene effects independently.
Along with ageing diseases, our researchers are investigating Leber’s hereditary optic neuropathy (LHON), working to discover how defects in mitochondrial metabolism contribute to this rare inherited disease.
Why this research is important
Our research in glaucoma will help determine if new treatment approaches that target mitochondrial function – rather than focusing on eye pressure – can help slow disease progression.
By studying the cellular and molecular changes that occur in LHON, we hope to make discoveries that will lead to treatments to prevent or treat this devastating condition.
Key research questions
- Can nuclear gene variants combine with mitochondrial DNA variants to increase disease risk in glaucoma and Parkinson’s disease?
- Investigating the protective pathways that prevent vision loss in Leber’s hereditary optic neuropathy.