TY - JOUR
T1 - Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives
T2 - Frontiers in Neurology
AU - Peron, C
AU - Maresca, A
AU - Cavaliere, A
AU - Iannielli, A
AU - Broccoli, V
AU - Carelli, V
AU - Di Meo, I
AU - Tiranti, V
PY - 2021
Y1 - 2021
N2 - 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 is the most frequent mitochondrial disease, which leads young people to blindness, in particular males. Despite that causative mutations are present in all tissues, only a specific cell type is affected. Our deep understanding of the pathogenic mechanisms in LHON is hampered by the lack of appropriate models since investigations have been traditionally performed in non-neuronal cells. Effective in-vitro models of LHON are now emerging, casting promise to speed our understanding of pathophysiology and test therapeutic strategies to accelerate translation into clinic. We here review the potentials of these new models and their impact on the future of LHON patients. © Copyright © 2021 Peron, Maresca, Cavaliere, Iannielli, Broccoli, Carelli, Di Meo and Tiranti.
AB - 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 is the most frequent mitochondrial disease, which leads young people to blindness, in particular males. Despite that causative mutations are present in all tissues, only a specific cell type is affected. Our deep understanding of the pathogenic mechanisms in LHON is hampered by the lack of appropriate models since investigations have been traditionally performed in non-neuronal cells. Effective in-vitro models of LHON are now emerging, casting promise to speed our understanding of pathophysiology and test therapeutic strategies to accelerate translation into clinic. We here review the potentials of these new models and their impact on the future of LHON patients. © Copyright © 2021 Peron, Maresca, Cavaliere, Iannielli, Broccoli, Carelli, Di Meo and Tiranti.
U2 - 10.3389/fneur.2021.648916
DO - 10.3389/fneur.2021.648916
M3 - Article
SN - 1664-2295
VL - 12
JO - Front. Neurol.
JF - Front. Neurol.
ER -