Huntington’s Disease: A Tongue Twister in Your Genes?

Fifty-Fifty, those are the odds of having Huntington’s disease if one of your parents has it and for families affected by this disease those odds are too high. Huntington’s disease is a genetic disease that causes brain damage over time and has affected people like the folk legend Woody Guthrie. Currently there is no cure for Huntington’s and no way to prevent the progressive brain damage. However, scientists are working hard to bring those odds of dying from Huntington’s disease down to zero. My name is Danielle Fanslow, and I am a PhD candidate and cell biologist at Northwestern University. I study how our cells naturally defend against the causes of Huntington’s disease. So what causes Huntington’s anyway? The disease starts deep inside our cells, in the DNA blueprints. Normally the Huntington blueprint, or gene, contains a short repetitive segment of DNA letters: C, A, and G. Huntington’s disease occurs when that short segment has what I like to call a tongue-twister mutation. That is, the segment of DNA expands to the point where, just like when you repeat a tongue-Twister and stumble on your words, “she sells sea shells by the sea shore, she shells she blrblrblrb, AUUURGG,” the molecular machinery that reads the gene stumbles on the DNA letters. This results in the products of that gene called proteins to become jumbled. If left unchecked, these jumbled up huntington proteins build up and eventually take over the cell. Brain cells, or neurons, are especially susceptible to this type of damage. Huntington’s disease causes uncontrolled body movements, emotional disturbances, and a reduced ability to think and those problems get worse over time. So how do we go about finding a cure for Huntington’s disease? Well, one way is to look at how our cells naturally defend against the disease. I study how healthy cells monitor and cycle proteins in a process called protein quality control. This process involves sensing damaged proteins, rounding them up, and chopping them into pieces. Protein quality control works well in healthy cells but is no match for the tongue-twisted, mutant huntingtin protein. So in my research I compare healthy cells to Huntington’s disease patient cells to try and spot which specific components of the protein quality control pathway are directly compromised by the mutant huntingtin protein. Hopefully in time, with this knowledge, we can develop medicines that help treat patients with Huntington’s disease.

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