The Mitochondrial RNA Structurome as Mediator of Neurological Disease

Mitochondrial defects are associated with a range of neurodegenerative diseases from rare childhood disorders, like Leigh Syndrome, to more common neurodegenerative diseases, like Parkinson’s and ALS. We know very little about mitochondrial RNAs in neurodegeneration and less about mitochondrial RNA structure. This team will leverage new methods for RNA structure profiling and high throughput sequencing applied to gene-edited human cultured cells to characterize the structural landscape of the mitochondrial transcriptome and how it contributes to mitochondrial neurological disorders. This project will provide important foundational work for a broad range of neurodegenerative diseases and could pave the way towards the identification of mRNA structures that could be targets for new therapeutics.