University of Connecticut Reverses Prader-Willi Syndrome in Lab by Restoring Silent Genes – Gilmore Health News

Discovery by UConn Health Researchers Could Mean Much for Prader-Willi Syndrome Treatment

Stem cell researchers at the University of Connecticut Health Center (UConn Health) have made a discovery that may significantly improve the treatment of people with Prader-Willi syndrome.

A child with PraderWilli Syndrome

In research published in Human Molecular Genetics, scientists reported that they were able to reverse this genetic disorder in brain cells growing in the lab. They achieved this by turning on genes that are usually silent in patients.

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Prader-Willi syndrome is typically the result of certain genes losing their functions. It develops when there is a deletion of a section of a chromosome a baby inherits from his father.

The disorder occurs in around one of every 15,000 births. It is the leading genetic cause of life-threatening obesity and has no cure.

Prader-Willi syndrome is not due to a defective gene. It is rather the outcome of a healthy gene that refuses to perform its role having been silenced. The gene becomes silent if only the copy inherited from the mother is present in a child.

The UConn Health researchers got rid of a protein responsible for the silencing in this study. As a result, there was an improvement in Prader-Willi syndrome.

The scientists observed that a particular protein caused the gene to become silent. This compound referred to as ZNF274 also plays a part in blocking some other gene types from expressing themselves.

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However, the protein appears to work alone in the case of this genetic disorder. It often acts together with another protein to silence other types of genes.

To find a way around the silencing of the gene inherited from a mother, the UConn Health researchers got stem cells from some Prader-Willi patients. They then proceeded to delete the ZNF274 protein from the area of the DNA involved in this disorder.

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.

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.

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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.

https://academic.oup.com/hmg/article/27/3/505/4708236

https://www.pwsausa.org/basic-facts/

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