Researchers have identified a molecule that could pave the way for new treatments for Angelman syndrome, a rare genetic disorder caused by mutations in the UBE3A gene. This discovery offers hope for managing a condition that currently has no known cure.
Angelman syndrome arises from a unique genetic anomaly where the UBE3A gene inherited from the father is dormant in the neurons of affected children, while the maternal copy is absent. This rare condition affects about 1 in 15,000 individuals in France and manifests early in life, often within the first few months.
The disorder presents a range of symptoms, including impaired muscle control, speech and language difficulties, sleep disturbances, and movement abnormalities. Additionally, affected individuals often display an unusually happy demeanor and frequent bouts of laughter.
In a groundbreaking study, Professor Ben Philpot, Associate Director of the UNC Neuroscience Center, and his research team have discovered a small molecule capable of “activating” the dormant paternal copy of the UBE3A gene. This molecule, which can be administered non-invasively, holds the potential to restore normal protein and cellular function, akin to gene therapy for those with Angelman syndrome.
Philpot remarked, “This small molecule is an excellent starting point for developing a safe and effective treatment for Angelman syndrome, but there is still a lot of work to be done before we can launch a clinical trial.”
The study, published in the scientific journal Nature Communications, highlights that the molecule demonstrated high absorption in the brains of developing animal models. The researchers believe that no other small molecule has shown as much promise in creating a viable treatment for Angelman syndrome.
This significant discovery marks a hopeful step forward in the quest to develop effective therapies for this challenging genetic disorder, bringing new optimism to affected individuals and their families.
