Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber's hereditary optic neuropathy in a mouse model

摘要

The clinical features of Leber's hereditary optic neuropathy (LHON), a degenerative vision disorder, were first described in 1871 (1). More than 100 years later (1988), LHON became the first disease for which a point mutation in mtDNA was identified, by Wallace et al. (2). It is now well known that human mtDNA encodes 37 genes that are essential for cell viability. These genes are buffered against the effect of mutations because somatic, or nonreproductive, cells typically contain around 1,000 copies of mtDNA.