Showed that the nucleus is a critical subcellular site in
which mutant huntingtin induces neurodegeneration.
Not exact matches
In humans, Huntington's is an inherited disease caused by a gene encoding a toxic protein, called
mutant huntingtin,
which causes brain cells to die.
It is caused by a single gene abnormality
which leads to the production of a
mutant form of a protein called
huntingtin (mHtt).
2015 will see the start of the first human clinical trial of a gene silencing or
huntingtin - lowering drug,
which specifically aims to reduce production of
mutant huntingtin in the brains of HD patients.
In this study, we employed a method called optical pulse - labeling, or OPL,
which allowed us to see how the
mutant huntingtin ravaged the brain over time — neuron by neuron.»
Using neurons extracted from rodent models of Huntington's, the team employed the OPL method,
which tracked the speed and efficiency with
which different types of neurons were able to break down and dissolve the
mutant huntingtin.
We hope this will allow WAVE to actually measure what they're trying to do,
which is to reduce the levels of the
mutant huntingtin protein in the brain.
That's not what we expect when patients are given
huntingtin - lowering drugs,
which might produce around 50 - 75 % reductions in the
mutant and healthy protein.
Doing that lowered levels of the protein for
which the gene is a recipe:
mutant huntingtin.
The
huntingtin protein,
which in its
mutant form causes Huntington's disease, is difficult to study because it forms clumps rather than neat crystals.