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Scripps Research Answer the Mystery of How Genetic Mutations Lead to Diabetes Type 1

Posted Apr 20 2010 11:24am

The target discovery here has the potential of sending molecular therapies in a new direction instead of just perhaps treating with insulin, but rather go one step further and “break the tolerance” as the association and targets areas being identified.  Scripps is right in the heart of personalized medicine research and has several ongoing projects and you can read about one I posted about last year at the link below.  Study results are being stored in patient personal health records too.  The results of the genetic mutations for diabetes as mentioned below are published in the Journal of Clinical Investigations.  BD 

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LA JOLLA, CA -- April 19, 2010 -- Scientists from The Scripps Research Institute have provided an answer to the 40-year-old mystery of how certain genetic mutations lead to Type 1 diabetes. This new molecular understanding could lead to novel therapies for Type 1 diabetes and other autoimmune diseases.

The study was published in an advanced, online issue of the Journal of Clinical Investigation on April 19, 2010, and will appear in the May print edition of the journal.

"We found that the MHC region around position 57 can be seen by the T cell receptor," said Teyton. "That's the big novelty of the paper?for the first time, we show that it is not only essential for peptide binding, but also critical for the selection of T cells. Finally, we have an idea of why those particular MHC molecules are associated with disease."

Corper added, "What we have here is potentially a way of breaking 'tolerance'?the mechanism where the immune system doesn't respond to self. Obviously, if that breaks down you get autoimmune disease."

The team is now investigating potential antibody or small molecule therapies that could target and correct mutated MHC.

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