Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives

• DOI: 10.3389/fneur.2021.648916
• Publication Date: 2021-06-08T05:06:39Z
• Authors: Camille Peron; Alessandra Maresca; Andrea Cavaliere; Angelo Iannielli; Vania Broccoli; Valerio Carelli; Ivano Di Meo; Valeria Tiranti
• Keywords: Mitochondrial disease

More than 30 years after discovering Leber's hereditary optic neuropathy (LHON) as the first maternally inherited disease associated with homoplasmic mtDNA mutations, we still struggle to achieve effective therapies. LHON is characterized by selective degeneration of retinal ganglion cells (RGCs) and most frequent mitochondrial disease, which leads young people blindness, in particular males. Despite that causative mutations are present all tissues, only a specific cell type affected. Our deep understanding pathogenic mechanisms hampered lack appropriate models since investigations have been traditionally performed non-neuronal cells. Effective in-vitro now emerging, casting promise speed our pathophysiology test therapeutic strategies accelerate translation into clinic. We here review potentials these new their impact on future patients.