title: Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy.
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.
authors.affiliation: Dipartimento di Medicina Clinica e Biotecnologia Applicata D Campanacci, University of Bologna, Bologna, Italy. lodi@med.unibo.it
authors.forename: R
authors.initials: R
authors.lastname: Lodi
authors.forename: V
authors.initials: V
authors.lastname: Carelli
authors.forename: P
authors.initials: P
authors.lastname: Cortelli
authors.forename: S
authors.initials: S
authors.lastname: Iotti
authors.forename: M L
authors.initials: ML
authors.lastname: Valentino
authors.forename: P
authors.initials: P
authors.lastname: Barboni
authors.forename: F
authors.initials: F
authors.lastname: Pallotti
authors.forename: P
authors.initials: P
authors.lastname: Montagna
authors.forename: B
authors.initials: B
authors.lastname: Barbiroli
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000502:physiology; D009679:Nuclear Family; D009778:Occipital Lobe / Q000502:physiology*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics* / Q000473:pathology; D010085:Oxidative Phosphorylation
chemical_list: D004272:DNA, Mitochondrial