6. Conclusion

SLC25A46 plays a critical role in mitochondrial dynamics and the maintenance of mitochondrial cristae, which are particularly important in neurodevelopment and neurodegeneration. Loss of SLC25A46 function causes a wide spectrum of neurodegenerative diseases, including optic atrophy, peripheral neuropathy, progressive ataxia, Leigh syndrome, and lethal congenital pontocerebellar hypoplasia. In SLC25A46-related neurodegenerative diseases, phenotype severity correlates strongly with the magnitude of SLC25A46 level deficit observed.
