ABNORMAL GENE-PRODUCT IDENTIFIED IN HUNTINGTONS-DISEASE LYMPHOCYTES AND BRAIN

Huntington's disease(HD) is associated with expansion of an unstable C AG repeat. Using antibodies against the synthetic peptide correspondin g to the sequence of HD gene IT15, we have identified the HD gene prod uct in normal lymphocytes as a approximate to 350kDa protein by immuno blot analysis. Moreover, when a modified SDS-PAGE using a low concentr ation of methylenbisacrylamide was run longer, abnormal immunoreactive bands larger than normal ones were found exclusively in HD samples. T hese results demonstrate the existence of the expanded CAG repeat gene product and open a possibility that the expanded polyglutamine stretc h may really participate in the pathological process of the CAG repeat diseases. (C) 1995 Academic Press, Inc.