Huntingtin, from evolution to pathology

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Event details

Date 26.05.2011
Hour 14:00
Speaker Professor Elena Cattaneo
Location
SV1717A, EPFL
Category Conferences - Seminars
Huntingtin (htt) is the 3144 amino acid protein product of the Huntington’s disease (HD) gene that contains a polymorphic tri-nucleotide CAG repeat that is translated into polyglutamine amino acid (polyQ) residues in the protein. When this polyQ stretch at the 18 aminoacid (aa) position of the protein expands to over 39 residues, HD occurs, a fatal, genetically dominant, neurodegenerative disease. The CAG repeats are well conserved in deuterostomes, which suggests that they are an ancestral feature retained during the evolution of the protein. Our lab has demonstrated that huntingtin carries a number of brain-specific activities; for instance, it promotes transcription of neuronal genes among which is the BDNF, a neurotrophin critical for the survival and activity of cortical and striatal neurons. These data will be reviewed, in addition to more recent discoveries of molecules able to interfere with mutant huntingtin toxicity and the employment of human embryonic stem cells to generate the neurons lost in HD.

Practical information

  • General public
  • Free

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