To further explore nuclear transport's role in Huntington's disease, Grima took lab - grown mouse neurons and used chemical switches to a) turn on both an additional healthy copy of the RanGAP1 gene and a mutant
version of Huntingtin; b) just turn on the mutant Huntingtin; or c) just turn on a healthy
version of Huntingtin.
Neurons with the healthy
version of Huntingtin had about 18 percent die off, and neurons with the mutant
version of Huntingtin had about 38 percent die off.
This leads to the production of an abnormally long
version of the huntingtin protein.
It's the extra-long copy of the huntingtin gene that makes neurons sick, because it causes them to produce an extra-long, harmful
version of the huntingtin protein.
One thing that researchers have noticed is that the brain cells of HD patients and mouse models contain very short
versions of the huntingtin protein - only the first five per cent or so.
Not exact matches
Grima used two mouse models
of Huntington's disease: one with a human
version of the mutant
Huntingtin protein and another with an aggressive form
of the disease that contains only the first portion
of the mouse
Huntingtin protein.