Opa1 and MT-Nd6 mutations induce early mitochondrial changes in the retina and prelaminar optic nerve of hereditary optic neuropathy mouse models.

ABSTRACT: Hereditary optic neuropathies, including dominant optic atrophy and Leber's hereditary optic neuropathy, are genetic disorders characterized by retinal ganglion cell degeneration leading to vision loss, mainly associated with mitochondrial dysfunction. In this study, we analysed mitochondrial distribution and ultrastructure in the retina and longitudinal optic nerve sections of pre-symptomatic hereditary optic neuropathies mouse models with Opa1 and Nd6 deficiency to identify early mitochondrial changes. Our results show significant mitochondrial fragmentation and increased mitophagy in Opa1^+/- mice, indicating early mitochondrial changes prior to neuronal loss. Conversely, Nd6^P25L mice exhibited mitochondrial hypertrophy, suggesting an adaptive response

SUBMITTER: Bureau J 

PROVIDER: S-EPMC11630736 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature