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.
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.
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 the 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.
Restoring silent genes
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.
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.