title: [Huntington's disease: trinucleotide disease or polyglutamine disease?].
abstract: Huntington's disease (HD) is associated with expansion of an unstable CAG repeat. Using antibodies against the synthetic peptide corresponding to the sequence of HD gene IT15, we have identified the HD gene product in normal lymphocytes as a approximately 350kDa protein by immunoblot analysis. Moreover, when a modified SDS-PAGE using a low concentration of methylenbisacrylamide was run longer, abnormal immunoreactive bands larger than normal ones were found exclusively in HD samples. We also found double bands in HD brain homogenate samples. Recently on the other CAG repeat diseases, such as SCA1 and DRPLA, abnormal gene products were also reported. These results demonstrate the existence of the expanded CAG repeat gene products and open a possibility that the expanded polyglutamine stretch may really participate in the pathological process of the CAG repeat diseases.
authors: Department of Neurology, Faculty of Medicine, University of Tokyo.
authors: K
authors: K
authors: Ide
authors: N
authors: N
authors: Nukina
authors: I
authors: I
authors: Kanazawa
mesh_terms: D006801:Humans; D006816:Huntington Disease / Q000209:etiology*; D010455:Peptides; D011506:Proteins; D018911:Trinucleotide Repeats
chemical_list: D010455:Peptides; D011506:Proteins; C097188:polyglutamine