Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. Issue 6 (1st June 2002)

• Record Type: Journal Article
• Authors: Lodi, R; Carelli, V; Cortelli, P; Iotti, S; Valentino, M L; Barboni, P; Pallotti, F; Montagna, P; Barbiroli, B
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 72:Issue 6(2002)
• Page Start: 805
• Page End: 807
• Publication Date: 2002-06-01
• Subjects: Leber's hereditary optic neuropathy -- magnetic resonance spectroscopy -- tissue bioenergetics; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.72.6.805
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Occipital lobe and calf muscle energy metabolism were studied in vivo by magnetic resonance spectroscopy ( 31 P-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 31 P-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.