Remedy for cag repeat expansion diseases

Details Remedy for cag repeat expansion diseases Remedy for cag repeat expansion diseases

A - Human Necessities

61

K

A61K 31/16 (2006.01) A61K 31/13 (2006.01) A61K 31/145 (2006.01)

Patent

CA 2260311

To elucidate the molecular mechanisms of "gain of toxic function" of expanded polyglutamine stretches in CAG repeat expansion diseases, the inventorsestablished an expression system of full-length and truncated cDNAs for dentatorubral-pallidoluysian atrophy (DRPLA) and found that truncated DRPLA proteins containing the expanded polyglutamine stretch, but not the full-length protein, form peri- and intra-nuclear aggregates consisting of filaments and concomitant apoptosis. The apoptotic cell death was partially suppressed by transglutaminase inhibitors, cystamine and monodansyl cadaverine, raising the possibility of involvement of transglutaminase reaction. The results may providea potential basis for the development of therapeutic measures for CAG repeat expansion diseases.

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