Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation.

@article{Barbiroli1995DefectiveBA,
  title={Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation.},
  author={Bruno Barbiroli and Pasquale Montagna and Pietro Cortelli and Stefano Iotti and Raffaele Lodi and Piero Barboni and Lucia Monari and Elio Lugaresi and Chiara Frassineti and Paolo Zaniol},
  journal={Neurology},
  year={1995},
  volume={45 7},
  pages={1364-9}
}
In vivo phosphorus magnetic resonance spectroscopy (31P-MRS) showed defective brain and muscle energy metabolism in three affected siblings in a family with Leber's hereditary optic neuropathy (LHON) with the 11778 mtDNA mutation. We studied 14 nonaffected members of the same pedigree by 31P-MRS and molecular genetics. Nine of 14 individuals studied had the 11778 mtDNA mutation, with various degrees of heteroplasmy. A decreased brain energy reserve, as shown by low phosphocreatine content and… CONTINUE READING