The severe neurodegeneration associated with HuntingtonÕs disease may result from molecular mutations that block the transport of nutrients within cells. Findings from the Emory University School of Medicine indicate that the mutant huntingtin protein limits the efforts of the huntingtin-associated protein-1 (HAP1) to provide nutrients to growing neurons, or neurites. Without those nutrients, neurites fail to develop and mature neurons degenerate.
Huntingtons disease was first identified more than 125 years ago, and often inhibits speech, movement, reasoning and memory. The result of an abnormal Huntington gene, the hereditary disorder is estimated to affect one out of every 10,000 people. Though some current pharmacological treatments do address symptoms, scientists have been unable to stop the diseases progression.
However, scientists at Emory are making headway in the search for a cure. The findings that appear in the May 31 issue of the Journal of Neuroscience are the latest of more than a decade of Huntingtons disease-related discoveries led by Xiao-Jiang Li, PhD, professor of human genetics at Emory University School of Medicine.
Holly Korschun | EurekAlert!
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