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Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy
  1. R Lodi1,
  2. V Carelli2,
  3. P Cortelli3,
  4. S Iotti1,
  5. M L Valentino2,
  6. P Barboni4,
  7. F Pallotti5,
  8. P Montagna2,
  9. B Barbiroli1
  1. 1Dipartimento di Medicina Clinica e Biotecnologia Applicata “D Campanacci”, University of Bologna, Bologna, Italy
  2. 2Istituto di Clinica Neurologica, University of Bologna
  3. 3Dipartimento di Patologia Neuropsicosensoriale, University of Modena, Modena, Italy
  4. 4Dipartimento di Oculistica, “Centro Salus”, Bologna, Italy
  5. 5College of Physicians and Surgeons, Columbia University, New York, USA
  1. Correspondence to:
 Dr R Lodi, Dipartimento di Medicina Clinica e Biotecnologia Applicata “D Campanacci”, Universita' di Bologna, Policlinico S Orsola, Via Massarenti 9, 40138 Bologna, Italy;


Occipital lobe and calf muscle energy metabolism were studied in vivo by magnetic resonance spectroscopy (31P-MRS) in four members of a family harbouring the mitochondrial DNA G3460A mutation causing Leber's hereditary optic neuropathy (LHON). Three siblings carried 100% mutated mitochondrial DNA (homoplasmy), while their mother had coexistence of mutated and wild-type mitochondrial DNA (heteroplasmy). Indices of brain energy metabolism on 31P-MRS were abnormal in all subjects examined, but the muscle oxidative phosphorylation rate was normal. These findings indicate a tissue specific distribution of the biochemical expression of the G3460A LHON mutation and suggest that extramitochondrial factors, such as nuclear genes, may influence expression of this mutation in vivo.

  • Leber's hereditary optic neuropathy
  • magnetic resonance spectroscopy
  • tissue bioenergetics

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