denver — A drug in almost every medicine cabinet could be a treatment for a rare genetic disease.
Ibuprofen may help children There is a mutation in a gene called MAN1B1, Drosophila research suggests this. Clement Chow, a geneticist at the University of Utah in Salt Lake City, reported the results on November 6 at the annual meeting of the American Society of Human Genetics.
The MAN1B1 protein normally removes a sugar called mannose from misfolded proteins and targets them for disposal. Children who inherited two defective copies MAN1B1 gene have developmental delaysare prone to obesity and aggression, have unique facial features and many other problems. There is currently no cure or cure for this disease, called MAN1B1-congenital glycosylation disorder.
Chou and his colleagues decided to test a series of already approved drugs to see if they were effective. This type of drug repurposing research has become common. “This approach is important because people living with rare diseases cannot just sit back and wait for treatments to be developed, which can take decades,” Chow said.
The team created fruit flies. MAN1B1 A mutation has occurred in the eyes of flies. This mutation causes the eyes to become smaller and coarser. Researchers tested about 1,500 existing drugs on flies. Of these, 51 returned the flies’ eyes to their normal large ruby-colored state, and 47 made their condition worse. Nine of the drugs that brought the eyes back to normal were nonsteroidal anti-inflammatory drugs (NSAIDs), including ibuprofen and related painkillers.
These drugs inhibit the action of enzymes known as COX1 and COX2, reducing inflammation in the body. Flies lacking MAN1B1 had higher COX activity. Treatment with ibuprofen may reduce it. Genetically reducing the amount of COX also returned the eye shape to normal, indicating that excess enzyme is a problem when MAN1B1 is not quality tested.
Flies that lacked MAN1B1 completely in their bodies also suffered long-term seizures when the researchers banged the vial containing the flies on a countertop. However, when they treated the flies with ibuprofen, they became less prone to seizures.
The results in the flies were promising enough that doctors started giving low doses of ibuprofen to three children with the MAN1B1 mutation. Although the results are preliminary, “things are looking quite positive,” Chou said.
