Today’s awesome science fact is about new research about Huntington’s! In a Science Daily article on May 5, 2015, it was announced that researchers have discovered that a variant of the Huntington’s gene determines whether onset for the disease is early or late. This is enlightening and exciting research because little is currently known about how the disease operates and why it develops so early for some and late in others.
My great uncle, as I mentioned previously, did not develop symptoms of Huntington’s until he was in his late 80s or early 90s. My grandmother showed symptoms at 50, while my uncle developed symptoms earlier, while he was in his mid forties. The interesting thing about that, is that there as so far been a correlation between age of onset and progression of the disease, so the earlier you get it, the faster it progresses. Early-onset Huntington’s disease or Juvenile Huntington’s disease is much more rare than the disease itself, but also more devastating. Occurring in children as young as two and as old as 25, afflicted persons have a considerably shorter life expectancy of only 10 years after diagnosis.
While it might seem like a small step, knowing anything about this puzzling and complex disease is better than knowing nothing. This might be a key piece of information in discovering how the variant affects the speed of progression of the disease. In any case, knowing earlier that your HD could be faster than your mother’s or father’s is an important thing to know. One small step for now, one step closer to a cure.
Source:
Karolinska Institutet. “Gene variant determines early or late onset of Huntington’s disease.” ScienceDaily. ScienceDaily, 5 May 2015. <www.sciencedaily.com/releases/2015/05/150505082827.htm>.
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