Derivation and Characterization of Isogenic <i>OPA1</i> Mutant and Control Human Pluripotent Stem Cell Lines.

ABSTRACT: Dominant optic atrophy (DOA) is the most commonly inherited optic neuropathy. The majority of DOA is caused by mutations in the OPA1 gene, which encodes a dynamin-related GTPase located to the mitochondrion. OPA1 has been shown to regulate mitochondrial dynamics and promote fusion. Within the mitochondrion, proteolytically processed OPA1 proteins form complexes to maintain membrane integrity and the respiratory chain complexity. Although OPA1 is broadly expressed, human OPA1 mutations predominantly affect retinal ganglion cells (RGCs) that are responsible for transmitting visual information from the retina to the brain. Due to the scarcity of human RGCs, DOA has not been studied in depth using the disease affected neurons. To enable studies of DOA using stem-cell-deriv

SUBMITTER: Pohl KA 

PROVIDER: S-EPMC11764107 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature