Bates» team showed that a protein usually responsible for the editing of RNA message molecules actually sticks to expanded huntingtin RNA, but not to
normal huntingtin RNA.
However, there is far less known about the role of
normal huntingtin in adulthood.
In addition, he is also studying
the normal huntingtin cellular function in autophagy and how expansion of the poly - Q repeat may impair this function in HD.
This led scientists to deduce that
normal huntingtin is very important during development, especially in the brain.
We will need to continue to use caution when removing or lowering
normal huntingtin in human studies
Importantly, both studies suggest that we need to continue our current cautious approach when lowering
normal huntingtin in human studies.
Mutant huntingtin, although altered, is still present, and most people with HD have
normal huntingtin, too.
With clinical trials underway, it's all the more important to understand the role of
normal huntingtin in the adult brain.
The researchers introduced this extra gene, designed to be regulated in a way that is similar to
normal huntingtin genes, by injecting rhesus macaque oocytes with a viral vector.
Not exact matches
Plus, there are other drugs being developed and tested that aim to slow or prevent HD in other ways, by helping restore
normal functioning of the brain in the presence of the mutant
huntingtin protein.
A better understanding of the
normal role of the
huntingtin protein would make developing treatments easier.
Because the helper complex makes translation more efficient, the result of this interaction was that the cells made more extra-length than
normal - length
huntingtin protein.
Some of these approaches to attack mutant
huntingtin also reduce levels of the
normal protein, including the Ionis
huntingtin - lowering drug.
Another option may be the pursuit of «allele - specific» therapies, those that specifically target mutant
huntingtin while leaving the
normal form intact.
Current
huntingtin - lowering drugs, called ASOs, are also given as individual doses separated by several weeks, with
normal protein production expected to bounce back somewhat in between.
Because of the interaction with the helper complex, the cells made more extra-length than
normal - length
huntingtin protein.
15:19 - Nopoulos: KIDS - HD allows us to study not just HD but also the role of
huntingtin in
normal brain development
The more we understand about how the
normal and extra-long
huntingtin proteins are made and work in brain cells, the better equipped we'll be in the search for HD treatments.
Remember we're talking about
normal, not mutant
huntingtin here.
This interaction wasn't seen with
normal - length
huntingtin RNA.
As expected, they found that the
normal and extra-long genetic instructions were both translated into
huntingtin proteins when they met up with a ribosome (the chef from our analogy above).