Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome.
J Neurol Neurosurg Psychiatry
; 57(12): 1492-6, 1994 Dec.
Article
em En
| MEDLINE
| ID: mdl-7798979
ABSTRACT
Phosphorus magnetic resonance spectroscopy (31P-MRS) was used to study in vivo the energy metabolism of brain and skeletal muscle in two members of an Italian pedigree with NARP syndrome due to a point mutation at bp 8993 of mtDNA. In the youngest patient, a 13 year old girl with retinitis pigmentosa, ataxia, and psychomotor retardation, there was an alteration of brain energy metabolism shown by a decreased phosphocreatine content, increased [ADP] and decreased phosphorylation potential. The energy metabolism of her skeletal muscle was also abnormal, as shown by resting higher inorganic phosphate and lower phosphocreatine concentrations than in normal subjects. Her mother, a 41 year old woman with minimal clinical involvement, showed a milder derangement of brain energy metabolism and normal skeletal muscle. Findings with MRS showed that this point mutation of mtDNA is responsible for a derangement of energy metabolism in skeletal muscle and even more so in the brain.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Isótopos de Fósforo
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Ataxia
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Encéfalo
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DNA Mitocondrial
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Espectroscopia de Ressonância Magnética
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Retinose Pigmentar
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Metabolismo Energético
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Deficiência Intelectual
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Músculos
Tipo de estudo:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Female
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Humans
Idioma:
En
Revista:
J Neurol Neurosurg Psychiatry
Ano de publicação:
1994
Tipo de documento:
Article
País de afiliação:
Itália