Rare Childhood Paralysis Causing Gene Discovered, Raises Hope for Treatments
Researchers have found the gene responsible for a rare and mysterious form of paralysis that occurs in children.
The disorder called alternating hemiplegia of childhood is characterized by recurrent bouts of paralysis of one or both the sides of the body. The paralysis can also be accompanied by seizures. The episodes of paralysis can last anywhere from hours to days causing delayed development. The cause of the disorder is still unknown, according to National Institute of Neurological Disorders and Stroke.
Now, researchers have discovered that a mutation in a gene causes this disorder. According to the researchers the discovery could lead to creating new drugs to treat the disorder plus the discovery could help better diagnose patients and avoid any mistreatment.
"The finding that ATP1A3 mutations cause AHC will increase awareness of the disease and the ability to accurately diagnose patients. While it may take a while for novel drugs to be developed to better treat this disease, we will see an immediate impact through specific testing for mutations in this gene when we suspect a case of AHC. This direct testing will prevent misdiagnoses that too often have caused patients to be treated with inappropriate medications," said Mohamad Mikati, MD, Professor of Pediatrics and of Neurobiology, and Chief of Pediatric Neurology at Duke and a senior author of the study.
All mutations were found to occur in a gene that codes for ATP1A3- a piece of a molecule that regulates brain activity by transporting sodium and potassium ions across nerve cells.
Mutations in this gene accounted for the presence of the disorder in 74 percent of the cases they studied.
Most people who suffer from this disorder don't have any other close relative that has the disorder. Researchers compared genomes of seven patients with their parents and found out the culprit gene mutation behind the crippling disorder.
"Knowing that we were looking for genetic mutations in children with this disease that were absent in the healthy parents, we carefully compared the genomes of seven AHC patients and their unaffected parents. When we found new mutations in all seven children in the same gene we knew we had found the cause of this disease," said Erin Heinzen, PhD, co-author of the study, according to a statement to DukeHealth.org.
The study was published in the journal Nature Genetics.