Lowering levels of toxic protein reverses abnormalities in cells from patients with Huntington's disease
24 January 2014
UCL scientists, led by Professor Sarah Tabrizi at the UCL Institute of Neurology, in collaboration with colleagues at the University of Massachusetts Medical School, have shown for the first time that switching off the mutant protein that causes the fatal brain disorder Huntington’s disease can reverse abnormalities in living cells taken from patients with the disease.
Drugs that aim to ‘silence’ the mutant protein are likely to enter clinical trials in the next few years, and this research, published in Brain, is the first time that a drug that partially reduces the levels of the mutant protein has some beneficial effect in cells from Huntington’s disease patients, suggesting that the protein does not need to be completely depleted to delay or reverse harmful effects of Huntington’s disease.
These findings also shed light on how the protein affects the immune system to exert damaging effects beyond those caused directly in the brain.
Trager et al. HTT-lowering reverses Huntington’s disease immune dysfunction caused by NFκB pathway dysregulation Brain (2014)
First published online: January 22, 2014.