Get out of the twilight
Scientists have figured out how to save "vampire" children from the light of the Sun
Scientists accidentally discovered that acetohexamide, an experimental drug for diabetes, can save the lives of "vampire" children with a very rare genetic disease that makes ultraviolet radiation from the Sun deadly for them, according to an article published in the journal Molecular Cell (Mazouzi et al., Repair of UV-Induced DNA Damage Independent of Nucleotide Excision Repair Is Masked by MUTYH).
"This discovery is interesting not only for studying how our cells cope with breakdowns in DNA, but also for the reason that it can 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 from the Center for Molecular Medicine of the Austrian Academy of Sciences in Vienna.
An extremely small number of people on Earth, about every millionth inhabitant of Europe, America and Asia, suffers from a very unusual disease discovered at the end of the 19th century. She, as some biologists and historians believe today, was the reason for the appearance of almost all legends about vampires, the "living dead" and other mythical creatures attacking people at night and dying in 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 genes DDB, XPA, ERCC 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 "bricks" 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 on the street can cause mass death of skin cells and lead to the development of the most aggressive forms of melanoma and other cancers. As a rule, carriers of such genes do not live to the age of 18, which is why they are often called "children of the Moon" or simply "vampires".
Mazuzi and his colleagues accidentally discovered the first medicine capable of saving the lives of such people, testing how various medications created in recent years to combat other diseases act on the cells of "vampire" children.
In total, scientists managed to find 40 drugs that protected at least 40% of cells from death, the most effective of which unexpectedly turned out to be acetohexamide, an experimental drug for type II diabetes 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 the repair of mutations in DNA. These permutations allow the cell to "bypass" those problems that arose as a result of the breakdown of the main system for correcting minor "typos" in the genome.
In particular, the diabetes drug, as Mazuzi and his colleagues found out, destroys the molecules of the MUTYH enzyme, one of the key components of the DNA repair system damaged in the cells of "vampire" children. The loss of this protein causes the cell to switch to other methods of correcting single mutations, which protects them from mass death with short exposure to ultraviolet radiation.
Figure from the article in Molecular Cell – VM.
This is supported by the fact that a similar effect can be achieved by simply deleting a 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.
Portal "Eternal youth" http://vechnayamolodost.ru