News

A mutation in the UBE3A gene, whose loss causes Angelman syndrome, activates a molecular pathway that is critical to brain development, new research shows. The study, “The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasome,” appeared in the…

Imprinting of the UBE3A gene – a phenomenon linked to Angelman syndrome – did not evolve as a method to control the dosage of UBE3A in neurons, a new study shows. The study, “Genomic imprinting does not reduce the dosage of UBE3A in neurons,” was published in…

Scientists have shown that thinner-than-normal nerve cell projections (axons) are involved in Angelman syndrome (AS) disease mechanism. The study, “Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice,” was funded by the Angelman…

A specific type of magnetic resonance imaging (MRI) can be used to detect oxidative stress in mouse models of Angelman syndrome and Alzheimer’s disease, new study shows. Hippocampus oxidative stress is considered pathogenic in neurodegenerative and neurodevelopmental disorders, such as Angelman syndrome. Yet the clinical benefits of antioxidant treatment for…

University of California researchers have developed a touchscreen test for mice with Angelman syndrome that they believe will shed additional light on learning disabilities stemming from the disease. It is one of a batteries of tests they are giving the animals to obtain a greater understanding of Angelman’s effect on…

WASHINGTON — Terry Jo Bichell earned a master’s degree in public health, became an expert in pregnancy-related deaths, and made documentary films about women’s health projects in Côte d’Ivoire, Gambia, Nigeria and Senegal. But nothing prepared her for the news that her baby, Louie, had Angelman syndrome. It was 17 years…

People with Angelman syndrome and other rare diseases need more psychosocial support, an Oregon State University study reports. A lot of the support can be similar, cutting across the types of disorders that patients have, the team said. It’s common for people with rare diseases to have more anxiety, depression, pain and…

Mutations in the VARS2 gene, which is involved in mitochondrial function, may lead to an Angelman syndrome-like disorder, according to a case report published in the journal Human Genomics. The case was presented by a research team at King Faisal Specialist Hospital and Research Centre in Riyadh, Saudi Arabia,…

The U.S. Food and Drug Administration (FDA) awarded a fast track designation to Ovid Therapeutics’ OV101 for the treatment of Angelman syndrome. The designation allows for expedited development and review of therapeutics for serious diseases with high unmet medical need. “This designation is an important milestone for both Ovid…

The melatonin secretion profile of patients with Angelman syndrome is impaired, leading to a variety of sleep problems, a new study shows. The study, “Melatonin and Angelman syndrome – implications and mathematical model of diurnal secretion,” was published in the International Journal of Endocrinology. Sleep disturbances…