Duke health researchers said they've identified a new cause of a certain disease common among Native Americans, like those of the Lumbee Tribe. The condition is called Glutaric Aciduria Type I, or GA-1.
Typically thought to have started in the brain, researchers found the metabolic disease is actually inherited through a mutation at birth, causing the body’s liver not to be able to break down certain proteins. The liver then backs up so much that it causes a toxic buildup that crosses the blood-brain barrier to the brain.
Duke researcher Karl-Dimiter Bissig said if it is not treated in the first year of a baby’s life, irreversible impairment can happen.
“Dystonia and chronic loss of certain motor skills, meaning that you cannot control your movement properly,” he said. “It can also cause a more broader inflammation and damage of the brain.”
According to Duke researchers, up to a third of children with the condition suffer long-term neurologic damage and some even die. Bissig said when researchers were studying the disease, they also found a cure when tested in mice: gene therapy.
“Our study is important because it's the first targeted therapy,” said Bissig. “So it's a therapy that directly can attack this medical problem and basically help those patients.”
Examples of the gene therapy treatments used include liver transplants or using CRISPR gene-editing technology to delete the genes causing the buildup.
In addition to Native Americans, people of Amish and Irish heritage are also highly susceptible to the GA-1 disease.
