Scientists accidentally discovered that acetohexamide, an experimental diabetes drug, could save the lives of vampire children with a very rare genetic disease that makes ultraviolet radiation from the sun deadly to them, according to an article in the journal Molecular Cell.
“This discovery is interesting not only for studying how our cells cope with DNA breakdowns, but also for the reason that it could pave the way for saving the lives of people suffering from this terrible disease. Unfortunately, there are no other methods to combat it today,”said Abdelghani Mazouzi of the Center for Molecular Medicine of the Austrian Academy of Sciences in Vienna.
An extremely small number of people on Earth, about every one million inhabitants of Europe, America and Asia, suffers from a very unusual disease, discovered at the end of the 19th century. She, according to some biologists and historians today, was the reason for the appearance of almost all legends about vampires, "living dead" and other mythical creatures that attack people at night and die on contact with the light of the Sun.
We are talking about the so-called pigmented xeroderma - a rare genetic disease that occurs as a result of breakdowns in the DDB, XPA, ERCC genes and a number of other parts of the genome. All of them are associated with the breakdown of small damages in DNA that occur when single breaks and mutations in the double helix appear, associated with collisions of ultraviolet rays with the "building blocks" of the genetic code and with other molecules in the cell.
These small mutations make the light of the Sun deadly for such people, since even short walks outside can cause massive death of skin cells and lead to the development of the most aggressive forms of melanoma and other types of cancer. As a rule, carriers of such genes do not live up to 18 years, which is why they are often called "children of the moon" or simply "vampires".
Mazuzi and his colleagues accidentally discovered the first drug that could save lives of such people, testing how various drugs created in recent years to fight other diseases affect the cells of children "vampires".
In total, scientists have found 40 drugs that have protected at least 40% of cells from death, the most effective of which was unexpectedly acetohexamide, an experimental type 2 diabetes drug that causes the pancreas to secrete more insulin.
Further experiments with acetohexamide showed that this substance does not block ultraviolet light by itself, but causes interesting changes in the work of genes associated with repairing mutations in DNA. These permutations allow the cell to "bypass" those problems that have arisen as a result of the breakdown of the main system for correcting small "typos" in the genome.
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Specifically, the diabetes drug, Mazuzi and his colleagues have found, destroys the MUTYH enzyme, one of the key components of the system to repair DNA damaged in the cells of vampire children. The loss of this protein forces the cell to switch to other methods of correcting single mutations, which protects them from mass death with short exposure to ultraviolet light.
This is supported by the fact that a similar effect can be achieved by simply deleting the gene containing instructions for assembling MUTYH molecules. In the near future, scientists plan to conduct a series of new experiments that will help them understand why MUTYH "interferes" with the repair of DNA in the cells of victims of xeroderma, and find more effective methods to combat this disease.
