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IU Researchers Discover Fragile X Syndrome Link

This image shows four intestinal samples from fruit flies. The normal-sized intestine appears in white. A larger-than-average intestine with a mutated FMR1 gene appears in red. A smaller-than-average intestine with a mutated LIN-28 gene appears in green. A sample from a fly with both mutations appears in yellow.

Indiana University scientists have identified a new link between a genetic disorder and one of its under-studied characteristics. The research focuses on the abnormal tissue growth of people with what’s called Fragile X Syndrome.

The syndrome is an inherited genetic disorder that is most known for causing intellectual disabilities. IU researcher Arthur Luhur has focused on the biological factors.

“Nobody really knows what happens to the tissues inside the organs with all the focus being on the neuronal problems,” says Luhur.

The work coming out of Bloomington sheds light on the biological side effects like larger intestines.

Luhur says to do this they mimicked a missing protein in fruit flies.

“So what happens with the stem cells from the mutant animals is that they tend to divide more and divide uncontrollably,” says Luhur.

The discovery builds on the team’s previous work focused on this biologic pathway linked to the body’s insulin receptors. The research may point to new treatments, like a common diabetes drug, to help alleviate symptoms.

The inherited disorder affects about one in 4,000 males and one in 7,000 females.

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