The disease is named after George Huntington who first described it in 1872 as a hereditary disorder.
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Huntington's disease is caused, in fact, by the mutation of the gene that codes for the huntingtin protein (HTT). When altered, this gene (Htt) causes the production of an abnormal HTT protein which causes the death of groups of neurons in the brain. Initially, the most affected part is located deep (nuclei of the base). As Huntington's disease progresses, the death of neurons in the cortex, therefore more on the surface, occurs. As the disorder progresses, the entire brain becomes atrophic (decreases in weight and volume). The expression of the irreversible damage suffered by neurons consists of increasingly severe deficits. Unfortunately, there is currently no cure.
borne by the genes are too small to be seen under the microscope. Huntington's disease is the consequence of a protein misfolding, that is, a failure to reach the native conformation of the protein in question.
