title: [Genomic instability in the brain: chromosomal mosaicism in schizophrenia].
abstract: OBJECTIVE
  Experimental verification of the hypothesis about the possible involvement of the mosaic genome variations (mosaic aneuploidy) in the pathogenesis of a number of mental illnesses, including schizophrenia and autism: a genetic study of the level of mosaic genome variations in cells of the brain autopsy tissues in healthy controls and schizophrenia.
  
  
  METHODS
  Autopsy brain tissues of 15 unaffected controls and 15 patients with schizophrenia were analyzed by molecular cytogenetic methods to determine the frequency of chromosomal mutations (the mosaic aneuploidy) in neural human cells. The original collection of chromosome-enumeration DNA probes to autosomes 1, 9, 15, 16, 18 and the sex chromosomes X and Y was used for the interphase cytogenetic analysis of chromosomes in the cells of the brain.
  
  
  CONCLUSIONS
  The frequency of low-level aneuploidy per individual chromosome was 0.54% (median - 0.53%; 95% confidence interval (CI) CI - 0.41-1.13%) in controls and 1.66% (median - 1.55%; 95% CI -1.32-2.12%) in schizophrenia (p=0.000013). Thus, the three-fold increase in aneuploidy frequency in the brain in schizophrenia was detected. It is suggested that mosaic aneuploidy, as a significant biological marker of genomic instability, may lead to genеtic imbalance and abnormal functional activity of neural cells and neural networks in schizophrenia.
authors.affiliation: Mental Health Research Center, Moscow, Russia; Veltishev Clinical Research Institute of Pediatrics, Moscow, Russia; Pirogov Russian National Research Medical University, Minzdrav RF, Moscow, Russia.
authors.forename: Y B
authors.initials: YB
authors.lastname: Yurov
authors.affiliation: Mental Health Research Center, Moscow, Russia; Veltishev Clinical Research Institute of Pediatrics, Moscow, Russia; Pirogov Russian National Research Medical University, Minzdrav RF, Moscow, Russia.
authors.forename: S G
authors.initials: SG
authors.lastname: Vorsanova
authors.affiliation: Mental Health Research Center, Moscow, Russia; Veltishev Clinical Research Institute of Pediatrics, Moscow, Russia; Pirogov Russian National Research Medical University, Minzdrav RF, Moscow, Russia.
authors.forename: I A
authors.initials: IA
authors.lastname: Demidova
authors.affiliation: Mental Health Research Center, Moscow, Russia; Veltishev Clinical Research Institute of Pediatrics, Moscow, Russia; Pirogov Russian National Research Medical University, Minzdrav RF, Moscow, Russia.
authors.forename: V S
authors.initials: VS
authors.lastname: Kravets
authors.affiliation: Mental Health Research Center, Moscow, Russia.
authors.forename: V M
authors.initials: VM
authors.lastname: Vostrikov
authors.affiliation: Mental Health Research Center, Moscow, Russia.
authors.forename: I V
authors.initials: IV
authors.lastname: Soloviev
authors.affiliation: Mental Health Research Center, Moscow, Russia.
authors.forename: N A
authors.initials: NA
authors.lastname: Uranova
authors.affiliation: Mental Health Research Center, Moscow, Russia; Veltishev Clinical Research Institute of Pediatrics, Moscow, Russia; Pirogov Russian National Research Medical University, Minzdrav RF, Moscow, Russia; Moscow State University of Psychology and Education, Moscow, Russia.
authors.forename: I Y
authors.initials: IY
authors.lastname: Iourov
mesh_terms: D000782:Aneuploidy; D001344:Autopsy; D001921:Brain / Q000473:pathology*; D016022:Case-Control Studies; D042822:Genomic Instability; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism; D009474:Neurons; D012559:Schizophrenia / Q000235:genetics*; D012984:Software