University of Connecticut Reverses Prader-Willi Syndrome in Lab by Restoring Silent Genes

After the deletion, the research team stimulated the stem cells to grow into neurons or nerve cells. The neurons grew as normal to the expectation of the scientists. Most importantly, they expressed the silent gene inherited from the mother.

Further research needed

This discovery provides a direction for future research aimed at finding a cure for this genetic disorder. Studies have mostly focused on finding a treatment for certain symptoms linked to it.

Symptoms associated with Prader-Willi syndrome include increased appetite and obesity, which can pose a serious threat to health. Short stature and intellectual disability are among other possible signs.

Interventions that can help to control these unpleasant symptoms can make so much difference in the life of a patient.

According to the UConn Health researchers, there are some other questions yet to answer regarding this discovery. For instance, it is not yet clear whether this approach can achieve the same effect directly in human brain cells. There is also a need to find out if it will work only in embryos, among other things.

Maeva Langouet, one of the UConn Health researchers, said there was still a need to find out whether deleting ZNF274 could lead to unwanted effects.

The post-doctoral fellow did express the hope that their findings may prove helpful to children with Prader-Willi syndrome in the future.