Mitochondrial Genetics and Optic Neuropathy

Mitochondrial dysfunction underlies many human disorders, including those that affect the visual system. The retinal ganglion cells, whose axons form the optic nerve, are often damaged by mitochondrial-related diseases which result in blindness. Both mitochondrial DNA (mtDNA) and nuclear gene mutations impacting many different mitochondrial processes can result in optic nerve disease. Of particular importance are mutations that impair mitochondrial network dynamics (fusion and fission), oxidative phosphorylation (OXPHOS), and formation of iron-sulfur complexes. Current genetic knowledge can inform genetic counseling and suggest strategies for novel gene-based therapies. Identifying new optic neuropathy- causing genes and defining the role of current and novel genes in disease will be important steps toward the development of effective and potentially neuroprotective therapies.