Aneuploidy in the normal and diseased brain |
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| Authors: | M A Kingsbury Y C Yung S E Peterson J W Westra J Chun |
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| Institution: | (1) Department of Molecular Biology, Helen L. Dorris Institute for the Study of Neurological and Psychiatric Disorders of Children and Adolescents, The Scripps Research Institute, 10550 North Torrey Pines Road, ICND 118, La Jolla, California 92037, USA;(2) Biomedical Sciences Graduate Program, University of California, San Diego, La Jolla, California 92093, USA |
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| 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.
Received 13 April 2006; received after revision 2 June 2006; accepted 13 July 2006 |
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| Keywords: | Aneuploid neuron chromosome loss and gain cancer Alzheimer’ s disease ataxia telangiectasia schizophrenia mosaic variegated aneuploidy Down syndrome |
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