These researchers observed that clumps of abnormal huntingtin protein, characteristic of Huntington's disease, could induce clumping in the normal form of the protein. This work is published in the February 2009 edition of Nature Cell Biology.Huntington's disease is a genetic neurological disorder causing neuron degeneration, which in turn affects motor and cognitive functions.  The illness arises due to an alteration in the gene sequence coding for huntingtin protein. When Huntington's disease develops, huntingtin protein forms clumps that hinder normal functions and are closely linked to neurodegeneration.Researchers at the CNRS Laboratoire d'enzymologie et biochimie structurales, in collaboration with researchers at Stanford University, have shown that huntingtin protein clumps are released from the cells where they develop and can propagate to healthy cells.  Once cells are infected, the normal form of huntingtin then starts to clump and the illness spreads. The researchers noticed that the clumps persisted over several generations of cells expressing normal huntingtin following their temporary exposure to protein clumps from Huntington's disease. This contamination by proximity is similar to the development of illnesses caused by prions (encephalopathies associated with "abnormal" prions).These results suggest that huntingtin protein clumps are transmissible and that their propagation from one cell to another could be a generic vector of neurodegenerative illnesses.

Full bibliographic information: BibliographyCytoplasmic penetration and persistent infection of mammalian cells by polyglutamine aggregates, Pei-Hsien Ren, Jane E. Lauckner, Loulia Kachirskaia, John E. Heuser, Ronald Melki and Ron R. Kopito, Nature cell biology, February 2009

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By pooling these samples, the SAEC has identified numerous genetic associations that may contribute to an individual's risk of developing serious drug-induced skin reactions. The data was compiled and analyzed just 16 months after the consortium was launched.

"We are pleased to be able to provide these invaluable data to the research community to both improve the productivity of drug development and to begin the critical process of developing validated biomarkers to forecast patients who may be at risk for drug-induced serious adverse events," said Arthur Holden, founder and chairman of the SAEC. "We continue to believe the application of genomics to research the genetic basis of serious adverse events will prove to be one the most productive early applications of this technology."

The consortium will publish its initial research results later this year.

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