Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy

Raffaele Lodi, Caterina Tonon, Maria Lucia Valentino, Stefano Iotti, Valeria Clementi, Emil Malucelli, Piero Barboni, Lora Longanesi, Simone Schimpf, Bernd Wissinger, Agostino Baruzzi, Bruno Barbiroli, Valerio Carelli

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Abstract

Dominant optic atrophy has been associated with mutations in the OPA1 gene, which encodes for a dynamin-related GTPase, a mitochondrial protein implicated in the formation and maintenance of mitochondrial network and morphology. We used phosphorus magnetic resonance spectroscopy to assess calf muscle oxidative metabolism in six patients from two unrelated families carrying the c.2708-2711delTTAG deletion in exon 27 of the OPA1 gene. The rate of postexercise phosphocreatine resynthesis, a measure of mitochondrial adenosine triphosphate production rate, was significantly delayed in the patients. Our in vivo results show for the first time to our knowledge a deficit of oxidative phosphorylation in OPA1-related DOA.

Original languageEnglish
Pages (from-to)719-723
Number of pages5
JournalAnnals of Neurology
Volume56
Issue number5
DOIs
Publication statusPublished - Nov 2004

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ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Lodi, R., Tonon, C., Valentino, M. L., Iotti, S., Clementi, V., Malucelli, E., Barboni, P., Longanesi, L., Schimpf, S., Wissinger, B., Baruzzi, A., Barbiroli, B., & Carelli, V. (2004). Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Annals of Neurology, 56(5), 719-723. https://doi.org/10.1002/ana.20278