PrincipaI Investigator: Taosheng Huang, MD, PhD
Key Personnel: Robert Hufnagel, MD, PhD, Elizabeth Schorry, MD, Kristen Sund, PhD, LGC, Yueh-Chiang Hu, PhD
Mitochondria are the parts of cells that generate energy to fuel all of our biological functions. These tiny structures exist within cells as interconnected networks organized by fission and fusion events. Disorders of mitochondria often result in degeneration of different parts of the nervous system. Using new approaches to discovering genetic causes of human disease, we have identified mutations in the SLC25A46 gene associated with optic nerve atrophy and peripheral neuropathy. We further determined that this disease is due to defects in the process of mitochondrial fission. However, the role of SLC25A46 and other proteins in this process are generally unknown.
In this project, we plan to recruit additional families with optic nerve atrophy and peripheral neuropathy and to create a mouse model to study pathogenesis of SLC25A46 mutations. Our goals are to facilitate our understanding of the mechanism of SLC25A46 mutations in this disease, to identify new genetic causes of defective mitochondrial fission and fusion, and to investigate common pathways for defective mitochondrial function in order to one day develop a treatment.