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Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain

Nature Genetics volume 10, pages 99–103 (1995)Cite this article

Abstract

Dentatorubral–pallidoluysian atrophy (DRPLA) is associated with the expansion of an unstable GAG repeat. Using antibodies against a synthetic peptide corresponding to the sequence of the DRPLA gene product C terminus, we have identified the DRPLA gene product in normal human brains as a ≈190 kD protein. We also find a larger ≈205 kD protein specifically in DRPLA brains. Immunohistochemically, the DRPLA gene product is observed mainly in the neuronal cytoplasm. Our results demonstrate the existence of the expanded GAG repeat gene product and support the possibility that the expanded CAG–encoded polyglutamine stretch may participate in the pathological process of the similar trinucleotide repeat diseases.

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Authors and Affiliations

  1. Department of Neurology, Institute for Brain Research, Faculty of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113, Japan

    Ikuru Yazawa, Nobuyuki Nukina, Hideji Hashida, Jun Goto & Ichiro Kanazawa

  2. National Children's Medical Research Center, 3-35-31, Taishido, Setagaya, Tokyo, 154, Japan

    Masao Yamada

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  1. Ikuru Yazawa
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Yazawa, I., Nukina, N., Hashida, H. et al. Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain. Nat Genet 10, 99–103 (1995). https://doi.org/10.1038/ng0595-99

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