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- CLINICA NEUROL, 52: 63|72, 2012
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Special article by the winner of Narabayashi Prize
Elucidation of molecular pathomechanisms of Huntington's disease
Hitoshi Okazawa, M.D., Ph.D.
Department of Neuropathology, Tokyo Medical and Dental University
In Huntington's disease, CAG repeat expansion of the Huntingtin gene produces mutant RNA and mutant protein containing elongated polyglutamine tract, which causes dysfunction and cell death of neurons. From our reseach of Huntington's disease and other polyglutamine diseases for nearly 20 years, we identified new diseaserelated genes including PQBP1, Ku70, HMGB, Maxer, and Omi. Through the analysis of these molecules, we unraveled new pathomechanisms deeply linked to nuclear functions such as transcription, splicing, DNA damage repair. These findings will become the basis to develop new molecule targeted therapeutics.
Full Text of this Article in Japanese PDF (933K)
(CLINICA NEUROL, 52: 63|72, 2012)
key words: Huntington's disease, Hutingtin, DNA damage repair, Omics, polyglutamine
(Received: 6-Oct-11)