Seizures are a common symptom of Angelman syndrome (AS) and the cause of these seizures was unknown for a long time. This lack of knowledge made it impossible to cure this symptom. New research has discovered an ion channel in unregulated neurons, which seems to be the reason that people with AS have such frequent seizures. This knowledge will help to treat the seizures that make day-to-day life difficult and it could lead to treatments for conditions similar to AS, such as autism.
About Angelman Syndrome
Angelman syndrome (AS) is a neuro-genetic disorder. Due to its rarity, it is often misdiagnosed as cerebral palsy or autism. It is characterized by seizures, developmental disabilities, and neurological problems. It occurs when a gene on chromosome 15 is either defective or missing. The reason for this change in chromosome 15 is unknown, as there does not seem to be a hereditary component.
The first signs of AS present in early childhood, as children do not crawl or talk at the normal age. Seizures will come later in childhood. Children with this syndrome are often very happy and like to laugh and smile. Other symptoms of this condition include minimal or no speech, small head size, difficulty with walking and moving, tongue thrusting, hand flapping and uplifted arms when walking, stiff and jerky movements, sleep disorders, and feeding difficulties.
After a doctor notices the characteristic symptoms of AS, they will order genetic tests to confirm a diagnosis. These tests may be a DNA methylation test, gene sequencing tests, and fluorescence in situ hybridization (FISH) tests. After a diagnosis is confirmed, treatment is meant to manage the symptoms of the syndrome. Common treatments include anti-seizure medications and behavioral, physical, and communication therapy.
About the Research
The Duke-NUS Medical School and National Neuroscience Institute (NNI) have discovered an ion channel, in which potassium can pass through, that is unregulated and leads to the seizures that characterize AS. They believe that if this channel is blocked, the seizures in AS patients could stop.
A missing gene causes this unregulated channel, and this gene is common to forms of autism as well. Researchers believe that this research could be useful to those with AS and others with autism and other conditions.
Past research was unsuccessful, partly because mouse models were used. These models were not similar enough to human models, making it so that information learned in the mouse models could not be translated to humans. NNI and the Duke-NUS Medical School utilized 2D human neuronal cultures to study AS, followed by the use of 3D “mini brains.” These techniques allowed them to successfully study the brain activity of humans.
Researchers believe that the use of the technology that led to their discovery can also be helpful in other conditions and lead to more breakthroughs. They hope to keep working with this technology so that they can better the lives of those with Angelman syndrome and other conditions. Their next move is to create a drug-screening platform that will find drugs that can also be used for the treatment of epilepsy in those with AS.
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