articles and announcements

Research Discovers New Clues for Potential Treatments of Angelman Syndrome

March 8, 2013

Research Discovers New Clues for Potential Treatments of Angelman Syndrome

Angelman Syndrome Foundation-Funded Research Identifies Miscommunication of Neurons, New Drug Compound that May Lead to Treatments

The Angelman Syndrome Foundation (ASF) announced today that ASF-funded research has uncovered in more depth how Angelman syndrome, a neurodevelopmental disorder similar to autism, affects specific neurological processes that may be needed for memory and learning.  The research, which is being conducted through a scientific collaboration centered at Brown University in Providence, R.I., has also discovered how an existing drug compound may help restore these neurological processes affected by Angelman syndrome.

“I think we are really beginning to understand what is going wrong.  That’s what is very exciting,” said John Marshall, professor of medical science in the Department of Molecular Pharmacology, Physiology, and Biotechnology, and the senior author of this research study that was published in the journal PLoS Biology in January 2012.  “I am immensely indebted to the ASF for their research funding, as this study would not have been possible without their support.”

The greater understanding of neuronal communication that was revealed with this research project has positive implications for other Angelman syndrome research projects being conducted among other groups, just as other similar research projects assisted this research team in reaching their discovery.

“We at the ASF are inspired by the results of this research collaboration, and we look forward to seeing how it continues to develop and shed further light on the neuronal complexities of Angelman syndrome,” said Tim McCarty, president of the ASF board of directors.  “Our goal with all research that we fund is to support initiatives that examine different areas of Angelman syndrome to help broaden the understanding of exactly how Angelman syndrome can be treated.  It is broad, multiple-institution support that we believe will help move research faster and closer to a cure.”

Using an Angelman syndrome mouse model, the research team uncovered a signaling breakdown in Angelman syndrome that provides greater clarification about this specific neuronal function of the brain.  There are biochemical pathways stimulated in the typically developing brain, which are an important growth factor in learning processes, that are not fully activated in individuals with Angelman syndrome.  The research team believes this is what causes specific, yet undetermined, defects in neuronal communication in the Angelman syndrome brain.

The research team also uncovered how an existing drug compound called CN2097, which is believed to also protect neurons under conditions of stroke and in disease states such as multiple sclerosis, can help in correcting the signaling defects in Angelman syndrome.  CN2097 is a compound that is unlikely to be used in patients because it breaks down easily within a few hours, meaning that its beneficiary affects may not be long lasting.  However, the research team believes it may be possible to alter the chemistry of CN2097 to make it, or some form of it, useful as a treatment.

Read more about this research discovery from Brown University.  See more information about ASF-funded research.