Mitochondrial Ca2+ uptake correlates with the severity of the symptoms in autosomal dominant optic atrophy

- Knockdown of the mitochondrial protein Opa1 evokes enhanced mitochondrial Ca2+ uptake.
- In humans defect of OPA1 gene induces autosomal dominant optic atrophy (ADOA).
- We studied mitochondrial Ca2+ metabolism in fibroblasts of ADOA patients.
- The symptoms of visual malfunction correlated with mitochondrial Ca2+ uptake.
- Enhanced mitochondrial Ca2+ uptake may contribute to the progress of the disease.