Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy

R. Lodi, V. Carelli, P. Cortelli, S. Iotti, M. L. Valentino, P. Barboni, F. Pallotti, P. Montagna, B. Barbiroli

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)805-807
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume72
Issue number6
DOIs
Publication statusPublished - 2002

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

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