Abstract #1682

Malucelli E, Testa C, Valentino M, Barboni P, Schaich S, Wissinger B, Schimpf S, Carelli V, Lodi R, Manners D, Tonon C, Barbiroli B

Autosomal dominant optic atrophy (ADOA), the most common form of hereditary optic neuropathy, in most patients is due to a mutation within the OPA1 gene. OPA1 encodes a ubiquitously expressed GTPase related to dynamins, implicated in the formation and maintenance of mitochondrial network and morphology. Calf muscle oxidative metabolism was assessed by 31P-MRS in 15 patients with ADOA: 10 with mutations in the OPA1 gene and 5 without. Post-exercise PCr re-synthesis rate was significantly reduced in ADOA patients with OPA1 mutations but not in those without. Our in vivo results support the central role of mitochondrial dysfunction in the pathophysiology of OPA1-related ADOA