On a first close look, this nerve cell with a genetic mutation looks as if it has the potential to create dangerous home-made weapons. But what is causing the group of stringy, knotted clumps at the cell’s tip and are they possible to apply to the outside world?
We found the mutation in the rack from a rat’s hip. The bits of protein that appeared, which were not particularly bulky, would be present in many other hip stem cells that would mature to become an inch-long man-like organ or maybe even an extension of the ear or even the gut. But our gene called IDM9 was missing, the genetic cause of a characteristic “junk DNA” belt around the DNA that was known to contain all sorts of useless mutations for evolution but has rarely in the past been associated with nerve cells.
Although not unusual for nerve cells, the structure of the DNA belt around IDM9 was unusual and could not usually be used as an escape route from common threats to the cell.
However, what if this became a significant genetic secretion and before our nerves had a chance to sort out a higher pathogenic cause, or even developed the type of specialised corrective mechanisms to cure the defective stuff, we had cut ourselves open and it started dissolving in our bloodstream?
Other genes in the family of mutations that we identified as causing fibrosis are all prevalent in many diseases, such as certain rare conditions which are collectively known as amyloidosis. While mutations that result in unwanted hormones being injected into a patient are unavoidable (as well as not very “targeted”) a lot of research has shown that it is very possible to suppress a dysregulated immune system in others by reducing the synthesis of peptides and sugars in the immune system cells so that they become much less aggressive or even dormant. We do not know whether these fibrotic mutations affect these processes or if the DNA belt is an ultimate target. But maybe, if we could modify the genetic structures around them, we could counteract the effects of fibrosis.
The DEC peptide is a chemical messenger that goes to us when we are thinking and moving, and we use them to communicate with other cells in the body, such as the bone. The synthesis of this protein is controlled by an enzyme called euplase, which has a special control switch that switches the mode of this enzyme, meaning that the production of this messenger can be controlled with molecules which do not currently exist.
But perhaps in the right drugs, as researchers found earlier this month, we could manipulate this switching mechanism and fix the overactivity, where the protein breakdown is essentially permanent. These materials can be made in one of two ways, either by adding a different phosphate group to the enzyme, or replacing the whole enzyme with a harmless substitute.
If we could block some of the nicotinic receptors we already know turn off this activity, by creating a residue of the y/oy receptors that act as a replacement for the y/oy, this might still be able to regulate euplase activity enough to push back the lethal disrupters and help us relieve the repetitive and persistent processes behind fibrosis.