Mark Aaron Balbin

Medicine found in almost every household may help to alleviate symptoms of a rare genetic disorder, studies suggest.


Geneticist Clement Chow of the University of Utah presented the findings of their study at American Society of Human Genetics on November 6, hailing nonsteroidal anti-inflammatory drugs or NSAIDs as being a possible remedy for children with genetic mutations called MAN1B1.

MAN1B1 is a protein that strips a sugar called mannose from proteins failing to retain its normal state.

Mutations in the MAN1B1 gene can lead to obesity, hostility, unusual facial attributes, and a variety of other health issues.

The condition, known as MAN1B1-congenital disorder of glycosylation, currently has no known cure or treatment.

Using a lineup of already approved drugs, aided by other scientists, each was tested on fruit flies carrying mutated MAN1B1 genes in their eyes.

Unlike the normal trait of large and bright red eyes, fruit flies with faulty MAN1B1 genes made their eyes small and rough.

51 out of the 1500 drugs that they tested on the flies mended their eyes to large and smooth red.

Nine of the medications that helped the eyes return to normal were NSAIDs, or nonsteroidal anti-inflammatory drugs, consisting of ibuprofen and similar painkillers.


Aiming to lessen inflammation in the body, NSAIDs block the activity of enzymes known as cyclooxygenase-1 and -2 (COX).

With flies lacking MAN1B1, there was increased COX activity that could be reduced through NSAIDs.

Although NSAIDs can help ease its symptoms, these drugs cannot repair the mutated MAN1B1 gene.

Furthermore, NSAIDs’ effects on the disease are temporary, and will eventually disappear if discontinued, resulting in the return of inflammation and stress symptoms.

NSAIDs are useful but limited treatment options since, although they may assist to lessen symptoms, they are unable to address the root cause of the genetic condition.