Symposium at the 2006 FENS Forum

Together with Ana Cristina Rego, from the Center for Neuroscience and Cell Biology at the University of Coimbra, I am organizing a Symposium on "CAG Triplet Repeat Disorders".

This Symposium will focus in the polyglutamine diseases, with particular emphasis on Huntington’s disease (HD). The CAG repeat diseases include HD, spinocerebellar ataxias (SCAs) and other rare diseases. Mutations consisting of CAG expansions within the coding regions result in abnormally long polyglutamine tracts in the mutant proteins. The result is a selective loss of neurons with a different anatomical distribution for each disorder. The genetic defects have been established but the mechanism(s) by which the mutant proteins initiate the specific pathogenic processes remains to be elucidated. HD is the most common and best studied CAG disease resulting from a CAG expansion in the huntingtin gene, which causes the protein to misfold and form amyloid-like inclusions in the brain. Downstream consequences include abnormal protein-protein interactions, transcriptional disregulation, and mitochondrial dysfunction, however, the precise etiology of this disease is unknown. The quality of the speakers, including younger as well as more established researchers, constitutes a major focus of attraction. Their diverse backgrounds and broad range of expertise (molecular and clinical) were critical aspects that guided our choices. This Symposium is intended to promote the understanding of molecular mechanisms operating in the polyglutamine diseases, especially in HD, a topic that has been less explored in previous FENS meetings.

The speakers will be:

Chiara Zuccato, University of Milano
“The neuronal function of huntingtin, the protein involved in Huntington’s disease”

Marian DiFiglia, MGH – Harvard Medical School
“The Role of Huntingtin Proteolysis in the Pathogenesis of Huntington's Disease”

Paul Muchowski, University of Washington
“A genomic screen in yeast implicates kynurenine 3-monooxygenase as a therapeutic target for Huntington’s disease”

Erich Wanker, Max Delbruck Centrum fur Molekulare Medizin
“Development of therapeutic strategies for amyloid diseases