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Instability of chromosomes in human nerve cells (Normal and with Neuromental Diseases)

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Abstract

It is assumed that the genetic mechanism of pathogenesis of such widely spread neural and mental diseases as schizophrenia (SZ), autism, ataxia-telangiectasia (AT), and Alzheimer’s disease (AD) is associated with structural and functional genomi biological markers of genomic instability. The currently available methods of molecular cytogenetics (I-MFISH, QFISH, and ICS-MCB) facilitate the solution of numerous fundamental biological problems, including analysis of genomic variations in brain cells. Using these methods, we have studied for the first time aneuploidy in human embryo and adult brain cells (normal and with AT, AD, and SZ) as well as in blood cells of children with autism. The level of aneuploidy was increased two- to threefold in the embryo brain with a subsequent reduction of the number of abnormal cells in the adult brain. In the case of SZ, mosaic aneuploidy for chromosomes 1, 18, and X was found. The study of blood cells from children with autism showed chromosomal mosaicism for chromosomes X, 9, and 15. In the case of AT, we observed a global expression of aneuploidy in up to 20–50% of cortex and cerebellum neurons. In addition, a local instability of chromosome 14 was revealed in the degenerating cerebellum in the form of breaks in the 14q12 region. In the case of AD, a tenfold increase was observed in the level of aneuploidy for chromosome 21 in brain sections subjected to neurodegeneration. These data indicate that mosaic genomic instability in nerve cells is one of the mechanism of neurodegenerative and mental diseases.

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References

  1. Lintas, C. and Perisco, A.M., Autistic Phenotypes and Genetic Testing: State-of-the-Art for the Clinical Geneticist, J. Med. Genet., 2009, vol. 46, no. 1, pp. 1–8.

    Article  PubMed  CAS  Google Scholar 

  2. Iourov, I.Yu., Vorsanova, S.G., and Yurov, Yu.B., X-Linked Mental Retardation, Epigenetic Phenomena and Autism, Psikhiatriya, 2005, no. 1, pp. 55–65.

  3. Iourov, I.Yu., Vorsanova, S.G., and Yurov, Yu.B., Chromosomal Variation in Mammalian Neuronal Cells: Known Facts and Attractive Hypotheses, Int. Rev. Cytol., 2006, vol. 249, pp. 143–191.

    Article  PubMed  CAS  Google Scholar 

  4. Iourov, I.Yu., Vorsanova, S.G., and Yurov, Yu.B., Molecular Cytogenetics and Cytogenomics of Brain Diseases, Curr. Genomics, 2008, vol. 9, no. 7, pp. 452–465.

    Article  PubMed  CAS  Google Scholar 

  5. Vorsanova, S.G., Yurov, I.Yu., Demidova, I.A., et al., Variability in the Heterochromatin Regions of the Chromosomes and Chromosomal Anomalies in Children with Autism: Identification of Genetic Markers of Autistic Disorders, Zh. Nevrol. Psikhiatrii, 2006, vol. 106, no. 6, pp. 52–57.

    CAS  Google Scholar 

  6. Vorsanova, S.G., Yurov (Iourov), I.Yu., Demidova I.A., et al., Variability in the Heterochromatin Regions of the Chromosomes and Chromosomal Anomalies in Children with Autism: Identification of Genetic Markers of Autistic Spectrum Disorders, Neurosci. Behav. Physiol., 2007, vol. 37, no. 6, pp. 553–558.

    Article  PubMed  CAS  Google Scholar 

  7. Yurov, Yu.B., Vorsanova, S.G., Iourov, I.Yu., et al., Unexplained Autism Is Frequently Associated with Low-Level Mosaic Aneuploidy, J. Med. Genet., 2007, vol. 44, no. 8, pp. 521–525.

    Article  PubMed  CAS  Google Scholar 

  8. Vorsanova, S.G., Voinova, V.Yu., Yurov, I.Yu., et al., Cytogenetic, Molecular-Cytogenetic and Clinico-Genealogical Investigation of Mothers Having Children with Autism: A Search for Familial Genetic Markers of Autistic Disorders, Zh. Nevrol. Psikhiatrii, 2009, vol. 109, no. 6, pp. 54–64.

    CAS  Google Scholar 

  9. Iourov, I.Yu., Yurov, Yu.B., and Vorsanova, S.G., Mosaic X Chromosome Aneuploidy Can Help to Explain the Male-to-Female Ratio in Autism, Med. Hypotheses, 2008, vol. 70, no. 2, p. 456.

    Article  PubMed  Google Scholar 

  10. Xu, J., Zwaigenbaum, L., Szatmari, P., and Scherer, S.W., Molecular Cytogenetics of Autism, Curr. Genomics, 2004, vol. 5, no. 4, pp. 347–364.

    Article  CAS  Google Scholar 

  11. Sebat, J., Lakshmi, B., Malhorta, D., et al., Strong Association of de novo Copy Number Mutations with Autism, Science, 2007, vol. 316, no. 5823, pp. 445–449.

    Article  PubMed  CAS  Google Scholar 

  12. Iourov, I.Yu., Vorsanova, S.G., Kirillova, E.A., and Yurov, Yu.B., First Case of del(1)(p36.2p33) in a Fetus Delivered Stillborn, Prenatal Diagn., 2006, vol. 26, no. 11, pp. 1092–1093.

    Article  Google Scholar 

  13. Carreira, I.M., Melo, J.B., Rodrigues, C., et al., Molecular Cytogenetic Characterization of a Mosaic add(12)(p13.3) with an inv dup(3)(q26.31qter) Detected in an Autistic Boy, Mol. Cytogenet., 2009, vol. 2, p. 16.

    Article  PubMed  CAS  Google Scholar 

  14. Vorsanova, S.G., Yurov, I.Yu., Soloviev, I.V., and Yurov, Yu.B., Geterokhromatinovye raiony khromosom cheloveka: kliniko-biologicheskie aspekty (Heterochromatic Regions of Human Chromosomes: Clinicobiological Aspects), Moscow: Medpraktika, 2008.

    Google Scholar 

  15. Vorsanova, S.G., Iourov, I.Yu., Voinova-Ulas, V.Y., et al., Partial Monosomy 7q34-qter and 21pter-q22.13 Due to Cryptic Unbalanced Translocation t(7; 21) but not Monosomy of the Whole Chromosome 21: A Case Report Plus Review of the Literature, Mol. Cytogenet., 2008, vol. 1, p. 13.

    Article  PubMed  CAS  Google Scholar 

  16. Szatmari, P., Paterson, A.D., Zwaigenbaum, L., et al., Mapping Autism Risk Loci Using Genetic Linkage and Chromosomal Rearrangements, Nat. Genet., 2007, vol. 39, no. 3, pp. 319–328.

    Article  PubMed  CAS  Google Scholar 

  17. Iourov, I.Yu., Vorsanova, S.G., and Yurov, Yu.B., Chromosomal Mosaicism Goes Global, Mol. Cytogenet., 2008, vol. 1, p. 26.

    Article  PubMed  CAS  Google Scholar 

  18. Freitag, C.M., The Genetics of Autistic Disorders and Its Clinical Relevance: A Review of the Literature, Mol. Psychiatr., 2007, vol. 12, no. 1, pp. 2–22.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Mental Health Research Centre, Russian Academy of Medical Sciences, Moscow, 119152, Russia

    Yu. B. Yurov, S. G. Vorsanova, I. V. Solov’ev & I. Yu. Iourov

  2. Institute of Pediatrics and Children’s Surgery, Rosmedtechnologii, Moscow, 127412, Russia

    Yu. B. Yurov, S. G. Vorsanova & I. Yu. Iourov

Authors
  1. Yu. B. Yurov
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  2. S. G. Vorsanova
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  3. I. V. Solov’ev
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  4. I. Yu. Iourov
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Corresponding author

Correspondence to Yu. B. Yurov.

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Original Russian Text © Yu.B. Yurov, S.G. Vorsanova, I.V. Solov’ev, I.Yu. Iourov, 2010, published in Genetika, 2010, Vol. 46, No. 10, pp. 1352–1355.

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Yurov, Y.B., Vorsanova, S.G., Solov’ev, I.V. et al. Instability of chromosomes in human nerve cells (Normal and with Neuromental Diseases). Russ J Genet 46, 1194–1196 (2010). https://doi.org/10.1134/S1022795410100121

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  • DOI: https://doi.org/10.1134/S1022795410100121

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