Nucleic Acids Research, 2012, Vol. 40, No. 1 11–26
doi:10.1093/nar/gkr729
Wlodzimierz J. Krzyzosiak, Krzysztof Sobczak, Marzena Wojciechowska, Agnieszka Fiszer, Agnieszka Mykowska and Piotr Kozlowski.
Laboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of sciences, Noskowskiego, 12/14, 61-704 Poznan, Poland
Over 20 different genes containing unstable TNRs have been implicated in the pathogenesis of human neurological diseases (TREDs) .Expanded CTG, CGG, GAA and CAG repeats are associated with DM1, FXTAS, Friedreich’s ataxia (FRDA) as well as HD and a series of SCAs.
Nechanisms underlying TREDs:
-Toxic RNA gain-of-function caused by transcripts harboring expanded CUG, CAG or CGG repeats
-Toxic protein gain-of-function through expression of polyglutamine (polyQ) tract encoded by mutant CAG repeats
-Aberrant loss-oftranscript and loss-of-protein function caused by GAA (FRDA) and CGG expansions.
Considering the results of the most recent reports one can speculate that the mechanistic complexity of pathogenesis in TREDs is higher and more variable.
Full text PDF
Monday, January 2, 2012
Subscribe to:
Posts (Atom)
