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The Disease Protein Huntingtin and Neuronal Protein Aggregations in Huntington’s Disease (HD)

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The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy

Part of the book series: Advances in Anatomy, Embryology and Cell Biology ((ADVSANAT,volume 217))

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Abstract

Identified in 1993 and located on chromosome 4p16.3, the human HD gene (also called IT15) contains 67 exons and spans more than 200 kb. It harbors meiotically unstable CAG trinucleotide or polyglutamine repeats (cytosine, adenine, guanine) in its exon 1, which encode the very large 350 kDa huntingtin protein (Htt). Htt consists of about 3100 amino acids and undergoes extensive posttranslational modifications (Fig. 9.1) (Andrew et al. 1993; Atkin and Paulson 2014; Borrell-Pagès et al. 2006; Brundin et al. 2010; Cattaneo et al. 2005; Davies et al. 2007; Duyao et al. 1993; Finkbeiner and Mitra 2008; Imarisio et al. 2008; Labbadia and Morimoto 2013; Li and Conforti 2013; Li and Li 2011; Margolis and Ross 2003; Myers et al. 1993; Ortega et al. 2007; Paul 2008; Renner and Melki 2014; Schulte and Littleton 2011; The Huntington’s disease Collaborative Research Group 1993; Vonsattel 2008; Walker 2007a, b).

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Authors and Affiliations

  1. Dr. Senckenbergisches Chronomedizinisches Institut, Goethe University Frankfurt, Frankfurt, Germany

    Udo Rüb

  2. Medical Center Neurological Institute, Columbia University, New York, NY, USA

    Jean Paul G. Vonsattel

  3. Division Psychiatic Clinic Morphological Brain Research Unit, Julius Maximilians University Würzburg, Würzburg, Germany

    Helmut Heinsen

  4. University of Sao Paulo Medical School, Sao Paulo, Brazil

    Helmut Heinsen

  5. Dr. Senckenbergisches Chronomedizinisches Institut, Goethe University, Frankfurt, Frankfurt, Germany

    Horst-Werner Korf

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  1. Udo Rüb
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  3. Helmut Heinsen
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  4. Horst-Werner Korf
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Rüb, U., Vonsattel, J.P.G., Heinsen, H., Korf, HW. (2015). The Disease Protein Huntingtin and Neuronal Protein Aggregations in Huntington’s Disease (HD). In: The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy. Advances in Anatomy, Embryology and Cell Biology, vol 217. Springer, Cham. https://doi.org/10.1007/978-3-319-19285-7_9

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