WHAT IS ANGELMAN SYNDROME?

Angelman Syndrome (often abbreviated AS) is a severe neurological disorder characterized by profound developmental delays, problems with motor coordination (ataxia) and balance, and epilepsy. Angelman Syndrome is named after a British pediatrician, Dr. Harry Angelman who described the syndrome in 1965. Angelman Syndrome effects approximately 1 in 15,000 to 20,000 live births worldwide. Angelman Syndrome affects all races and genders equally.

Angelman Syndrome is an example of genomic imprinting in that it is caused by deletion or inactivation of genes. Angelman Syndrome is a genetic-based disorder resulting from the loss of function of the UBE3A gene in the brain. Loss of UBE3A prevents neurons from functioning correctly, leading to deficits in learning and memory. Importantly, loss of UBE3A does not appear to affect neuronal development, indicating that neurons could function normally if UBE3A function is restored.

Individuals with Angelman Syndrome do not develop functional speech. Debilitating seizures disorder are also persistent in individuals with Angelman Syndrome. Often, these seizures are difficult to treat. Other common symptoms of Angelman Syndrome include feeding disorders in infancy, often persisting throughout childhood, and sleeping difficulties.

Individuals with Angelman Syndrome tend to have a happy demeanor, characterized by frequent laughing, smiling, excitability and hand flapping. Many individuals with Angelman Syndrome are attracted to water and take great pleasure in activities like swimming and bathing. Individuals with Angelman Syndrome are sometimes referred to as "Angels" because of the syndrome name and also because of their youthful and happy appearance.  

People living with Angelman Syndrome require life-long care, intense therapies to help develop functional skills and improve their quality of life, and close medical supervision often involving multiple medical interventions. Angelman Syndrome may be misdiagnosed since other syndromes have similar characteristics.

THERE IS HOPE FOR A CURE and HERE'S WHY!

UNLIKE many other disorders and diseases such as Autism and Alzheimer's where an exact cause is unknown, the cause of Angelman Syndrome is known. The function of one gene, UBE3A, in the genome is missing. Without UBE3A, the neurons can't function correctly which causes the symptoms seen in individuals with Angelman Syndrome. By knowing the exact cause of Angelman Syndrome, therapeutic researchers can focus directly on reversing the cause.

FORTUNATELY, researches have discovered that the loss of UBE3A does not affect neuronal development only neuronal function.  This means that neuronal development in individuals with Angelman Syndrome has  properly developed. If therapeutics can restore or find a substitution for UBE3A then many or all of the symptoms of Angelman Syndrome may be silenced.

THERAPUETIC research has verified that small animal models, more specifically mice,  that lack the proper function of UBE3A show many of the same characteristics as human individuals with Angelman Syndrome, including learning and physical mobility difficulties as well as seizures. Laboratory evidence has shown that by modifying other gene productions, mice living with many symptoms of Angelman Syndrome can be fully alleviated of these symptoms. This evidence suggests that if the functional UBE3A proteins in the neurons of individuals with Angelman Syndrome can be restored, many of the symptoms including learning difficulties and movement disorders may be reduced or recovered.

SEVERAL possibilities are being investigated as to how UBE3A may be restored in individuals with Angelman Syndrome. Biologically speaking,  everyone has two copies of the UBE3A gene, one inherited maternally (from mother) and one inherited paternally (from father). Although we have two, we only use the maternally inherited gene. The majority of individuals with Angelman Syndrome either have deletions that have removed the maternal copy of UBE3A or have mutations which prevent the maternal UBE3A gene from properly functioning.  As previously mentioned, everyone has a paternal UBE3A gene as well but this gene is not naturally used. Research is being conducted to develop a drug or treatment to activate the paternal UBE3A, with hopes to restore the genes function in the neuron. Researchers have shown that small degrees of the paternal UBE3A can be activated through various experiments. Continued research is being conducted to find a drug or treatment that can activate the paternal UBE3A in a larger capacity.

Another possible research strategy to alleviate symptoms of Angelman Syndrome is to find a way to restore neuronal function by correcting the issues caused by lack of UBE3A. Research results have indicated that mice with Angelman Syndrome have benefitted both by increased learned behaviour as well as increased  motor development skills by over activating another gene product (CaMKII) used to compensate for the loss of UBE3A. Again, if researchers can find a drug or treatment to enhance CaMKII activity in neurons, this would also alleviate some or many of the symptoms of Angelman Syndrome.

FAST Video: Close to a Cure!

THE cause of Angelman Syndrome was first published in 1997. In 2007, Angelman Syndrome was cured in a mouse model. THIS IS TRULY AMAZING! Unfortunately, Angelman Syndrome is rare and therefore government funding is minimal. The majority of funding for Angelman Syndrome is raised by families and friends on individuals with this disorder. Proper funding would recruit new researchers and increase funding to those already dedicated to Angelman Syndrome research.  We need your help! Donate and become part of a miracle!

If you are a parent, care provider or family member of an individual with Angelman Syndrome or any other rare intellectual disorder we want you to know you are not ALONE. Angels & Friends is here to help you anyway we can. Please contact US!

Much of the information discussed on this page has been taken from FAST. For more information about the cause, symptoms, scientific research and awareness of Angelman Syndrome please visit www.cureangelmans.org