Common Painkiller Ibuprofen Shows Promise for Treating Rare Genetic Disorder
Researchers have discovered that ibuprofen, an over-the-counter drug, may offer hope as a treatment for a rare genetic disorder known as MAN1B1-congenital disorder of glycosylation (CDG). This disease, caused by mutations in the MAN1B1 gene, affects children by causing developmental delays, obesity, aggression, distinctive facial features, and other health complications. Currently, no established cure exists for this disorder.
Clement Chow, a geneticist at the University of Utah, presented findings from his team’s study using fruit flies at the American Society of Human Genetics meeting. In their research, Chow and colleagues mutated the MAN1B1 gene in fruit flies, causing them to develop small, rough eyes. Testing about 1,500 existing drugs, the team found that 51 restored the flies’ eye appearance to the typical large, ruby-red state. Among these, nine were nonsteroidal anti-inflammatory drugs (NSAIDs), including ibuprofen.
NSAIDs work by inhibiting COX enzymes, which are involved in inflammation. Flies with the MAN1B1 mutation exhibited unusually high COX activity, but ibuprofen helped lower this activity and restored the eye shape. Additionally, ibuprofen reduced seizure-like symptoms in flies lacking MAN1B1. Based on these promising results, a doctor has started three children with MAN1B1 mutations on low-dose ibuprofen, with early results appearing hopeful.
J.K. Park Staff Reporter junior/1732165133/1613368089
1. What is the name of the rare genetic disorder mentioned in the article?
2. Who led the study on ibuprofen and MAN1B1-related disorders?
3. What unusual symptom did fruit flies with the MAN1B1 mutation have?
4. How does ibuprofen help in treating the effects of the MAN1B1 mutation?
1. Have you ever taken ibuprofen for a headache or other pain? Did it help you?
2. How do you feel knowing that medicines can help treat both common and rare illnesses?
3. Why do you think scientists use fruit flies to study human diseases?
4. If you could help discover a new treatment for an illness, what kind of illness would you want to treat?
Researchers have discovered that ibuprofen, an over-the-counter drug, may offer hope as a treatment for a rare genetic disorder known as MAN1B1-congenital disorder of glycosylation (CDG). This disease, caused by mutations in the MAN1B1 gene, affects children by causing developmental delays, obesity, aggression, distinctive facial features, and other health complications. Currently, no established cure exists for this disorder.
