denver — A drug found in almost every medicine cabinet could be a cure for a rare genetic disease.
Ibuprofen may help children There was a mutation in the gene. MAN1B1, Research on fruit flies suggests. Clement Chow, a geneticist at the University of Utah in Salt Lake City, reported the results Nov. 6 at the annual meeting of the American Society of Human Genetics.
The MAN1B1 protein normally removes sugars called mannose from misfolded proteins, targeting them for disposal. Children who inherited two faulty copies MAN1B1 gene have developmental delaysThey are prone to obesity and aggression, have unique facial features and many other problems. There is currently no cure for this disease, called MAN1B1-congenital glycosylation disorder.
Chow and colleagues decided to test already approved drugs to see if they could help. These types of drug repurposing studies have become common. “This approach is important because people living with rare diseases cannot just wait for drug development, which can take decades,” Chow said.
The team created fruit flies. MAN1B1 A mutation has occurred in the eye of a fly. The mutation causes the eyes to become small and rough. Researchers tested about 1,500 existing drugs in Paris. Of those, 51 restored the fruit fly’s eyes to their usual large, ruby-colored state, while 47 made their condition worse. Nine of the drugs that returned the eyes to normal were nonsteroidal anti-inflammatory drugs (NSAIDs), including ibuprofen and related painkillers.
These drugs reduce inflammation in the body by inhibiting the action of enzymes known as COX1 and COX2. COX activity was high in flies lacking MAN1B1. Treatment with ibuprofen may lower levels. And genetically lowering the amount of COX restores normal eye appearance, indicating that excess enzyme is the problem when MAN1B1 is unable to perform its quality checks.
Flies without any MAN1B1 in their bodies also developed prolonged seizures when researchers knocked on a vial containing the flies on a counter. However, treating flies with ibuprofen caused them to have fewer seizures.
The results of the Paris experiment were promising enough for doctors to begin testing three children with the MAN1B1 mutation on low-dose ibuprofen. The results are preliminary, but “things look pretty positive,” Chow said.
