Knowledge of the minute details of the proteins that are linked to diseases is crucial if we are to discover therapeutic targets and thus pave the way for possible treatments. Such knowledge gains even more relevance when dealing with rare diseases that have received little attention and for which no treatments are available, such as the case of Kennedy's disease. Recently, Xavier Salvatella, Ph.D., ICREA researcher at the Institute for Research in Biomedicine (IRB Barcelona), in collaboration with scientists from the University of Florence (Italy), has described a molecular system of protection that involves the androgen receptor protein (image of structure), a molecule that is mutated in patients with Kennedy's disease and which cause progressive muscle wastage. The finding brings in-depth molecular insights that can lead to new studies and bring researchers closer to finding a therapeutic target for Kennedy's disease. The study was published in the June 7, 2016 issue of the Biophysical Journal, part of the Cell group. The article is titled “Sequence Context Influences the Structure and Aggregation Behavior of a PolyQ Tract B.” In Kennedy's disease, the muscle cells and motor neurons -- the latter linked to muscle function too -- are damaged as a result of the accumulation of androgen receptor fibers -- a process that causes them to die. "Many aspects of diseases involving aggregates, such as Alzheimer's and Parkinson's, are unknown. In this regard, Kennedy's disease is in a worse position because it is a rare condition," explains Dr. Salvatella, head of the Molecular Biophysics Lab at IRB Barcelona. The onset of this genetically inherited disease occurs in late adulthood, affecting one in every 40,000 men and causing progressive deterioration of all muscles.
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