Muscle mitochondrial DNA deletion and 31P-NMR spectroscopy alterations in a migraine patient.
A 40-year-old female suffering from recurrent migrainous strokes is reported. She did not show any muscle weakness or wasting. Ragged red and cytochrome c oxidase negative fibers were present in the muscle biopsy. Muscle mitochondrial DNA analysis showed a 5 kb deletion, without a point mutation at nucleotide pair 3243 in the mitochondrial tRNALeu(UUR) gene. Phosphorus nuclear magnetic resonance spectroscopy of brain and gastrocnemius muscle showed a defective energy metabolism in both organs. An increased inorganic phosphate to phosphocreatine ratio due to a decreased phosphocreatine content was found in the occipital lobes, while an abnormal work-energy cost transfer function and a low rate of phosphocreatine post-exercise recovery were found in the muscle.
Bresolin
N
N
Istituto di Clinica Neurologica, Centro Dino Ferrari, Universita' degli Studi di Milano, Italy.
Martinelli
P
P
Barbiroli
B
B
Zaniol
P
P
Ausenda
C
C
Montagna
P
P
Gallanti
A
A
Comi
G P
GP
Scarlato
G
G
Lugaresi
E
E
D000328:Adult; D015139:Blotting, Southern; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D002872:Chromosome Deletion; D004262:DNA Restriction Enzymes; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000378:metabolism; D004734:Energy Metabolism; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D008881:Migraine Disorders / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008931:Mitochondria, Muscle / Q000378:metabolism / Q000502:physiology*; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D009838:Oligodeoxyribonucleotides; D010758:Phosphorus; D012335:RNA, Ribosomal / Q000235:genetics; D012343:RNA, Transfer / Q000235:genetics; D012356:RNA, Transfer, Leu / Q000235:genetics*
D004272:DNA, Mitochondrial; D009838:Oligodeoxyribonucleotides; D012335:RNA, Ribosomal; D012356:RNA, Transfer, Leu; D010758:Phosphorus; D012343:RNA, Transfer; D003576:Electron Transport Complex IV; D004262:DNA Restriction Enzymes