Early Results of Gene Therapy for Angelman Syndrome Look Promising
October 25, 2021
Researchers recently published results of early tests of a gene therapy strategy for Angelman syndrome, a rare neurodevelopmental disorder that features poor muscle control and balance, hard-to-treat epilepsy, and intellectual disabilities.
Angelman syndrome affects roughly 1 in every 20,000 children. In United States there may be more than 15,000 people with the condition and it has no specific treatment.
The genetics of Angelman syndrome are more complicated than classic single-gene disorders such as cystic fibrosis and sickle cell anemia. Humans inherit 1 maternal and 1 paternal copy of most genes. Angelman syndrome arises in children whose maternal UBE3A copy has somehow been mutated or deleted.
For reasons that aren’t fully clear, mature neurons normally express only the maternal copy of UBE3A; the paternal copy is effectively silenced. Thus, when the maternal copy is lost, the gene’s function is absent in neurons. Because UBE3A encodes a protein that helps regulate the levels of other important proteins, its absence severely disrupts brain development.
Source: https://www.ajmc.com/view/early-results-of-gene-therapy-for-angelman-syndrome-look-promising
Img Source: https://www.genengnews.com/magazine/319/gene-therapy-ever-more-common-for-rare-disorders/