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

作者：IDE K; NUKINA N; MASUDA N; GOTO J; KANAZAWA I

来源：Biochemical and Biophysical Research Communications, 1995, 209(3): 1119-1125.

DOI：10.1006/bbrc.1995.1613

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 approximate to 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. These results demonstrate the existence of the expanded CAG repeat gene product and open a possibility that the expanded polyglutamine stretch may really participate in the pathological process of the CAG repeat diseases.

• 出版日期1995-4-26