title: Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family.
abstract: Three siblings of a family affected with Leber's hereditary optic neuropathy (LHON) showed a mitochondrial DNA mutation at position 11778. The lactate response to a standardized effort was increased in only one case. Muscle biopsies and biochemistry of muscle and platelet mitochondrial enzymes were normal. All patients showed an altered energy metabolism during exercise and during recovery after exercise on phosphorus 31-magnetic resonance spectroscopy (31P-MRS) of muscle. Brain 31P-MRS showed a decreased energy reserve (decreased PCr/Pi ratio) in all patients. 31P-MRS noninvasively demonstrated an altered mitochondrial energy metabolism in muscle and, for the first time, in the brains of LHON patients.
authors.affiliation: Neurological Institute, University of Bologna, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Cortelli
authors.forename: P
authors.initials: P
authors.lastname: Montagna
authors.forename: P
authors.initials: P
authors.lastname: Avoni
authors.forename: S
authors.initials: S
authors.lastname: Sangiorgi
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: M
authors.initials: M
authors.lastname: Moggio
authors.forename: P
authors.initials: P
authors.lastname: Zaniol
authors.forename: V
authors.initials: V
authors.lastname: Mantovani
authors.forename: P
authors.initials: P
authors.lastname: Barboni
authors.forename: B
authors.initials: B
authors.lastname: Barbiroli
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D000328:Adult; D001921:Brain / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics; D004734:Energy Metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D010725:Phosphocreatine / Q000378:metabolism; D010758:Phosphorus
chemical_list: D004272:DNA, Mitochondrial; D010725:Phosphocreatine; D010758:Phosphorus; D000255:Adenosine Triphosphate