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Scientists at Rutgers believe they may have found a way to prevent and possibly even reverse a rare childhood degenerative disease.
The disease leaves children with slurred speech and the inability to walk, which results with them in a wheelchair.
Research was done by Karl Herrup, chair of the Department of Cell Biology and Neuroscience at Rutger’s School of Arts and Sciences. His research, which was published in the April 1 online edition of Nature Medicine, provided new information on why this particular genetic disease attacks the cerebellum, which is a part of the brain which controls coordination and equilibrium.
Herrup and his colleagues learned while studying human brain tissue studies that young adults who died from axtaxia-telangiectasia, or A-T disease, had a protein known as HDAC4 in the wrong place. This protein, which regulates bone and muscle development, ended up in the nucleus of a nerve cell rather then in the cytoplasm. When in its proper place, HDAC4 helps prevent nerve cell degeneration.
The researchers tested a chemical compound called trichostation A (TSA) on mice to see if it would help with preventing the HDAC4 in the nucleus from allowing degeneration. The test worked and now scientists have hope that this can help in the treatment of humans.
A-T occurs in around 1 in ever 40,000 births. The disease causes the immune system to break down, which leaves children to become susceptible to certain cancers, like leukemia. There currently is no known cure and most of the children die in their early 20s.