Advertisement

Cellular and Molecular Life Sciences CMLS

, Volume 63, Issue 22, pp 2626–2641 | Cite as

Aneuploidy in the normal and diseased brain

  • M. A. Kingsbury
  • Y. C. Yung
  • S. E. Peterson
  • J. W. Westra
  • J. Chun
Human Genome & Diseases: Review

Abstract.

The brain is remarkable for its complex organization and functions, which have been historically assumed to arise from cells with identical genomes. However, recent studies have shown that the brain is in fact a complex genetic mosaic of aneuploid and euploid cells. The precise function of neural aneuploidy and mosaicism are currently being examined on multiple fronts that include contributions to cellular diversity, cellular signaling and diseases of the central nervous system (CNS). Constitutive aneuploidy in genetic diseases has proven roles in brain dysfunction, as observed in Down syndrome (trisomy 21) and mosaic variegated aneuploidy. The existence of aneuploid cells within normal individuals raises the possibility that these cells might have distinct functions in the normal and diseased brain, the latter contributing to sporadic CNS disorders including cancer. Here we review what is known about neural aneuploidy, and offer speculations on its role in diseases of the brain.

Keywords.

Aneuploid neuron chromosome loss and gain cancer Alzheimer’s disease ataxia telangiectasia schizophrenia mosaic variegated aneuploidy Down syndrome 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Birkhäuser Verlag, Basel 2006

Authors and Affiliations

  • M. A. Kingsbury
    • 1
  • Y. C. Yung
    • 1
    • 2
  • S. E. Peterson
    • 1
  • J. W. Westra
    • 1
    • 2
  • J. Chun
    • 1
  1. 1.Department of Molecular BiologyHelen L. Dorris Institute for the Study of Neurological and Psychiatric Disorders of Children and Adolescents, The Scripps Research InstituteLa JollaUSA
  2. 2.Biomedical Sciences Graduate ProgramUniversity of CaliforniaSan Diego, La JollaUSA

Personalised recommendations