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The brain in Down syndrome

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Protein Expression in Down Syndrome Brain

Summary

Down syndrome (trisomy 21) is a genetic disease with developmental brain abnormalities resulting in early mental retardation and precocious, age dependent Alzheimer-type neurodegeneration. We tried to discuss the role of neurodevelopmental abnormalities in connection with aberrant expression of genes on chromosome 21 including amyloid precursor protein (APP), CuZn superoxide dismutase (SOD1) and glial-derived S100 beta protein for neurodegeneration in DS. In this model, alterations in developmental pathways due to aberrant gene expression can impair cellular homeostasis and predispose to neurodegeneration of certain brain regions and types of nerve cells, involving cholinergic, serotonergic and catecholaminergic transmission, by shifting balance toward a pro-apoptotic state.

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Authors and Affiliations

  1. Department of Pediatrics, University of Vienna, Austria

    R. Seidl & G. Lubec

  2. Department of Neuropathology, Institute of Psychiatry, King’s College, London, UK

    N. Cairns

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  1. R. Seidl
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  2. N. Cairns
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  3. G. Lubec
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Editors and Affiliations

  1. Universität-Kinderklinik, Währinger Gürtel 18-20, A-1090, Wien, Austria

    Gert Lubec

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Seidl, R., Cairns, N., Lubec, G. (2001). The brain in Down syndrome. In: Lubec, G. (eds) Protein Expression in Down Syndrome Brain. Springer, Vienna. https://doi.org/10.1007/978-3-7091-6262-0_20

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  • DOI: https://doi.org/10.1007/978-3-7091-6262-0_20

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