Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family.
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.
Cortelli
P
P
Neurological Institute, University of Bologna, Italy.
Montagna
P
P
Avoni
P
P
Sangiorgi
S
S
Bresolin
N
N
Moggio
M
M
Zaniol
P
P
Mantovani
V
V
Barboni
P
P
Barbiroli
B
B
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
D004272:DNA, Mitochondrial; D010725:Phosphocreatine; D010758:Phosphorus; D000255:Adenosine Triphosphate