Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.
Ann Neurol
; 56(5): 719-23, 2004 Nov.
Article
em En
| MEDLINE
| ID: mdl-15505825
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trifosfato de Adenosina
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Atrofia Óptica Autossômica Dominante
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GTP Fosfo-Hidrolases
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Mitocôndrias Musculares
Limite:
Adolescent
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Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2004
Tipo de documento:
Article