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Deficit of in vivo mitochondrial ATP production in OPA1‐related dominant optic atrophy
Author(s) -
Lodi Raffaele,
To Caterina,
Valentino Maria Lucia,
Iotti Stefano,
Clementi Valeria,
Malucelli Emil,
Barboni Piero,
Longanesi Lora,
Schimpf Simone,
Wissinger Bernd,
Baruzzi Agostino,
Barbiroli Bruno,
Carelli Valerio
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20278
Subject(s) - phosphocreatine , atrophy , adenosine triphosphate , oxidative phosphorylation , in vivo , exon , mitochondrial dna , dynamin , biology , mitochondrion , gene , medicine , endocrinology , microbiology and biotechnology , biochemistry , genetics , energy metabolism , endocytosis , cell
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. Ann Neurol 2004;56:719–723