title: Brain white matter 1 H MRS in Leber optic neuropathy mutation carriers.
abstract: OBJECTIVE
  This study was conducted in order to test the hypothesis that proton MR spectroscopic (1H MRS) profile of Leber's hereditary optic neuropathy (LHON) mutation carriers group (including both symptomatic and asymptomatic) differs from group of healthy individuals and to determine metabolite or ratio that contributes most to differentiation.
  
  
  METHODS
  We performed single voxel 1H MRS in normal appearing white matter of eighteen LHON mtDNA mutation carriers bearing one of three LHON mtDNA point mutations and in fifty control subjects.
  
  
  RESULTS
  ANOVA showed significant difference for absolute concentration of creatine (Cr) (p < 0.01) and N-acetylaspartate to creatine ratio (NAA/Cr) (p < 0.01). Discriminant analysis revealed that decreased absolute Cr followed by decreased absolute NAA concentration have the most significant contribution in discriminating LHON mutation carriers from healthy controls.
  
  
  CONCLUSIONS
  Abnormal metabolic profile in normal appearing white matter on MR imaging seems to be significantly present in LHON mutation carriers.
authors.affiliation: Oncology Institute of Vojvodina, Diagnostic Imaging Center, Sremska Kamenica, Sremska Kamenica, Serbia. sunns@eunet.rs
authors.forename: Jelena
authors.initials: J
authors.lastname: Ostojic
authors.forename: Jasna
authors.initials: J
authors.lastname: Jancic
authors.forename: Dusko
authors.initials: D
authors.lastname: Kozic
authors.forename: Robert
authors.initials: R
authors.lastname: Semnic
authors.forename: Katarina
authors.initials: K
authors.lastname: Koprivsek
authors.forename: Mladen
authors.initials: M
authors.lastname: Prvulovic
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostic
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D001921:Brain / Q000378:metabolism*; D001931:Brain Mapping; D003401:Creatine / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007091:Image Processing, Computer-Assisted; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009154:Mutation; D009413:Nerve Fibers, Myelinated / Q000378:metabolism*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics / Q000378:metabolism*
chemical_list: D004272:DNA, Mitochondrial; D003401:Creatine