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American Focus > Blog > Tech and Science > A common drug may help treat a rare genetic disease
Tech and Science

A common drug may help treat a rare genetic disease

Last updated: November 8, 2024 11:15 pm
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A common drug may help treat a rare genetic disease
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A recent study presented at the American Society of Human Genetics annual meeting suggests that ibuprofen, a common drug found in almost every medicine cabinet, may hold promise as a treatment for a rare genetic disease known as MAN1B1-congenital disorder of glycosylation. This disease is caused by mutations in the MAN1B1 gene, which leads to developmental delays, obesity, aggression, distinctive facial features, and other health issues.

Geneticist Clement Chow and his team at the University of Utah conducted research on fruit flies with mutated MAN1B1 genes. The flies exhibited small and rough eyes as a result of the mutation. The researchers tested approximately 1,500 existing drugs on these flies and found that 51 drugs were able to restore the flies’ eyes to their normal state, while 47 drugs worsened the condition. Surprisingly, nine of the drugs that successfully restored the flies’ eyes were nonsteroidal anti-inflammatory drugs (NSAIDs), including ibuprofen.

Further investigation revealed that ibuprofen inhibits the activity of enzymes known as COX1 and COX2, which are involved in reducing inflammation in the body. In flies lacking MAN1B1, the activity of these enzymes was high, leading to abnormal eye shapes. By treating the flies with ibuprofen, the researchers were able to lower the enzyme activity and restore normal eye shapes, indicating a potential link between MAN1B1 and COX enzyme function.

Additionally, flies that completely lacked MAN1B1 experienced prolonged seizures when subjected to external stimuli. However, treatment with ibuprofen reduced the frequency of seizures in these flies, suggesting a neuroprotective effect of the drug in the absence of MAN1B1.

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Based on the promising results from the fly experiments, a doctor initiated a trial with three children who have MAN1B1 mutations, administering low-dose ibuprofen as a potential treatment. While the results are still preliminary, early indications are positive, and further research is underway to explore the therapeutic potential of ibuprofen in treating MAN1B1-congenital disorder of glycosylation.

In conclusion, the study highlights the importance of drug repurposing research in finding new treatments for rare genetic diseases, offering hope for individuals living with these conditions who may not have access to conventional therapies. Ibuprofen, a widely available and commonly used drug, shows promise as a potential treatment for MAN1B1-related disorders, paving the way for future clinical trials and therapeutic interventions.

TAGGED:CommondiseaseDruggeneticRaretreat
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