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The Domino Effect?

Researchers have developed a system that models Huntington's Disease in human embryonic stem cells and their findings may challenge recent breakthroughs as well as how we view the beginnings of the disease. According to Ali Brivanlou, the Robert and Harriet Heilbrunn Professor at Rockefeller University, “Our research supports the idea that the first domino is pushed soon after fertilization and that has consequences down the line. The final domino falls decades after birth when the symptoms are observable.”

The present way of thinking is that if you have the Huntington's gene you will eventually develop Huntington's Disease due to increased toxicity, however, this research team has concluded that anyone who inherits the faulty gene has the disease shortly after fertilization and that Huntington's Disease is not only a neurodegenerative disease but also a neurodevelopmental disease, according to Drug Target Review.

This is an important finding as it recommends targeting the development of treatments that could begin in early childhood and even suggests that once symptoms begin to occur it may be too late.

Treatments being developed today tend to target the blocking of the activity of the mutant HTT protein such as in the IONIS HTTRx study which recently announced a breakthrough in the reduction of the mutant protein which assumes the protein is more active than normal. However, this study showed that it was a lack of the protein that drove the disease rather than too much of it.


February 24, 2018 Update: According to the article - Uncovering the early origins of Huntington's disease via the Rockefeller University, it states that "The findings are significant, Brivanlou notes, since they indicate that existing treatments that were designed to block HTT activity may actually do more harm than good."

However, a representative from Rockefeller University, (Katherine Fenz, Media Relations Manager - Communications and Public Affairs), reached out to us to state that, "Dr. Brivanlou did not speak to Futurity regarding treatments developed by IONIS. Futurity is a site that reposts press releases from universities—the source of this story is Rockefeller. There is no mention of IONIS in Rockefeller’s press release."

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