Science

A common drug may help treat a rare genetic disease

Ibuprofen counters problems caused by mutations in the MAN1B1 gene, fruit fly tests show. Early results in three children are ”fairly positive.”

Nov 13, 2024 - 16:30

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A common drug may help treat a rare genetic disease

Ibuprofen counters problems resulting from mutations contained within the MAN1B1 gene, fruit fly tests show

Eight pills have spilled out of a knocked over bottle and more are visible within.

Ibuprofen, a typical pain reliever, may relieve symptoms of an exceedingly rare genetic disease.

REKINC1980/Getty Images

DENVER — A drug found in almost every medicine cabinet will likely be a treatment for a rare genetic disease.

Ibuprofen may lend a hand young individuals with mutations in a gene also often often called MAN1B1, a in finding out about in fruit flies suggests. Geneticist Clement Chow of the University of Utah in Salt Lake City reported the outcomes November 6 at the American Society of Human Genetics annual meeting.

The MAN1B1 protein in general strips a sugar also often often called mannose off misfolded proteins, concentrated on them for disposal. Teens who inherit two faulty copies of the MAN1B1 gene have developmental delays, are vulnerable to obesity and aggression, have distinctive facial features and a bunch of alternative issues. No cure or treatment for the disease, also often often called MAN1B1-congenital disorder of glycosylation, currently exists.

Chow and colleagues determined to look at a battery of already approved drugs to see if any would maybe lend a hand. The kind of drug repurposing research has change into common. The approach is “important because people living with rare diseases can’t just sit around watching for a drug to be developed, which may take decades,” Chow said.

In two side-by-side images, the one on the left looks bigger, brighter and redder; the one on the right looks shrunken and crustier. A genetic mutation that causes a rare disease in people made the eye on the right look odd. — Fruit flies in general have large glossy red eyes (left). A mutation contained within the *MAN1B1* gene makes the eyes small and rough (right). Ibuprofen can restore the normal appearance, suggesting the common household drug may be used to treat a rare disorder in people resulting from mutations in that gene.C. Chow

The team made fruit flies wherein MAN1B1 was once mutated contained within the flies’ eyes. The mutation causes the eyes to be small and rough. The researchers tested about 1,five hundred existing drugs on the flies. Of those, 51 restored the flies’ eyes to the usual large, ruby red state and 47 made the condition worse. Of the medication that returned the eyes to normal, nine were nonsteroidal anti-inflammatory drugs, or NSAIDs, including ibuprofen and related pain relievers.

Those drugs inhibit the action of enzymes most often often often called COX1 and COX2 to cut back inflammation contained within the body. In flies without MAN1B1, COX activity was once high. Treating with ibuprofen may lower it. And genetically lowering the quantity of COX also restored the normal eye shape, indicating that the overzealous enzyme is a subject matter when MAN1B1 isn’t around to run a quality check on it.

Flies that completely lack MAN1B1 in their bodies also had prolonged seizures when researchers banged the vial containing the flies on the counter. But treating the flies with ibuprofen made the flies less seizure-prone.

Results from the fly experiments were promising enough that a health care provider started three young those which have MAN1B1 mutations on low-dose ibuprofen. The outcomes are preliminary, but “things are looking fairly positive,” Chow said.