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Polyglutamine Folding Diseases

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Molecular Life Sciences

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Synonyms

CAG repeat pathologies; PolyGln diseases; Polyglutamine diseases; PolyQ diseases

Synopsis

The presence of repeats of the trinucleotide sequence CAG results in pathogenic stretches of glutamine in the gene product. The polyglutamine (polyQ) stretches, in turn, tend to aggregate and to induce other susceptible proteins to aggregate. This protein aggregation results in pathological states in certain cell types. Each pathology is discussed, as well as potential mechanisms and possible treatment strategies.

Introduction

There are a number of disease states, including six spinocerebellar ataxias, which originate from protein misfolding due to an extended stretch of glutamine residues. These stretches of polyglutamine (polyQ) cause the misfolded protein to aggregate, leading to neural cytotoxicity.

PolyQ diseases originate with the presence of extended unstable stretches of the trinucleotide CAG in specific proteins, which places them within a broader group of “triplet repeat...

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Authors and Affiliations

  1. Division of Environmental and Biological Sciences, University of Maine at Machias, Machias, ME, 04654, USA

    Shallee T. Page

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  1. Shallee T. Page
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Correspondence to Shallee T. Page .

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Editors and Affiliations

  1. Dept of Chemistry, University of Richmond, Richmond, Virginia, USA

    Ellis Bell

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© 2014 Springer Science+Business Media New York

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Page, S.T. (2014). Polyglutamine Folding Diseases. In: Bell, E. (eds) Molecular Life Sciences. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6436-5_702-1

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  • DOI: https://doi.org/10.1007/978-1-4614-6436-5_702-1

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6436-5

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