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Lowering levels of toxic protein reverses abnormalities in cells from patients with Huntington's disease

24 January 2014

Monocyte GeRPs

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.

That lowering of the toxic form of the huntingtin protein reverses the effects of the disease in easily obtained blood samples from patients, offers encouragement that such treatments may have similar effects in the brains of patients to slow the process of degeneration in Huntington’s disease.

Professor Sarah Tabrizi


Read more:

Press release

Trager et al. HTT-lowering reverses Huntington’s disease immune dysfunction caused by NFκB pathway dysregulation Brain (2014) doi: 10.1093/brain/awt355
First published online: January 22, 2014.

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