Researchers at the Stanford University School of Medicine and the University of British Columbia have identified several new biological markers to measure the progression of the inherited neurodegenerative disorder Huntington's disease (HD). Their findings, which were published online on November 7, 2016 in The Journal of Experimental Medicine, could benefit clinical trials that test new treatments for the disease. In HD, an expansion of a trinucleotide repeat sequence in the gene encoding huntingtin protein results in the production of a mutant form of huntingtin that can aggregate and damage cells, particularly neurons in the striatum and cerebral cortex. Patients display a progressive loss of voluntary and involuntary movements, as well as psychiatric and cognitive disturbances, and usually die 10-15 years after its onset. Though genetic testing can identify HD patients long before their first symptoms appear in middle age, there are still no pharmacological treatments that can prevent or ameliorate the disease. A few drugs have shown promise in cell culture or animal models, but clinical trials in humans are time-consuming because of the slow onset and progression of the disorder's clinical symptoms. Moreover, researchers are unable to take biopsies of the brain to assess the effects of potential therapeutic compounds. One of the earliest events in HD is that mutant huntingtin aggregates disrupt the function of mitochondria, lowering cellular energy levels, and causing oxidative damage. Dr. Daria Mochly-Rosen and her team at Stanford have previously identified a molecule, P110, that can restore mitochondrial function and prevent neuronal death in mouse models of HD.
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