We’ve written before about the frankly awful Huntington’s disease. The devastating way it strips a person of their motor functions, cognition, and day-to-day quality of life.
Treatments remain relatively scarce and focus primarily on masking the symptoms.
Short of a cure, the real game changer would be finding some way to manipulate Huntington’s disease on a genetic level.
Earlier this year, researchers took a significant step to doing just that. In March, researchers at Emory University’s School of Medicine published findings from a study.
Mice in the study were genetically engineered to “switch off” their huntingtin gene (which is the protein that mutates to cause Huntington’s symptoms).
Doctors thought that shutting down the gene could help. That way the protein couldn’t mutate and cause Huntington’s symptoms. But they worried about the possible side effects.
After all, huntingtin genes are in cells throughout the body. Obviously they have to play some role other than, you know, turning against you.
But when doctors deleted the gene in “adult” mice, the mice chugged along quite happily. They performed feats of mouse-movement and mouse-strength comparable to the control mice.
It’s a different story for mice engineered without the gene in utreo. The huntingtin gene is necessary for the development of healthy embryos (sorry mice!).
The long-term take-away is that the huntingtin gene would be switched off in at-risk adults who’ve finished developing.
While human trials might reveal more subtle side effects from switching off the gene, it does open up an exciting avenue of research and gives reason for hope to a community that could really use it.
So hey, thanks mice!
