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Huntingtin

   Also found in: Wikipedia 0.04 sec.
Huntingtin
A protein of unknown function encoded by the HD gene. The repeated CAG sequence in a defective HD gene causes the body to produce an abnormal form of huntingtin. It is not yet known why the abnormal form of huntingtin affects only certain regions of the brain.
Mentioned in: Huntington Disease


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In one experiment, Mattson and his colleagues worked with mice that carried a mutant form of the human huntingtin gene.
Neil Aronin, Professor of Medicine and Cell Biology and Director of Endocrinology and Metabolism at the University of Massachusetts Medical School presented in vivo data demonstrating that an siRNA targeting the huntingtin gene inhibited the progression of Huntington's disease in a mouse model.
Further testing in lab dishes containing neurons from mice genetically engineered to make a portion of the human mutant huntingtin protein showed that trehalose inhibits the protein clustering.
 
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