According to a story from Pompe Disease News, a recent study has concluded the polymorphisms of the ACE gene (which are genetic variations that occur naturally) do not have an impact on how Pompe disease patients respond to treatments such as enzyme replacement therapy. The study researchers have concluded that more research is necessary in order to determine why treatment responses among patients of all ages can vary so widely.
About Pompe Disease
Pompe disease, which is also known as glycogen storage disease type II, is a genetic, metabolic disorder. This disease can cause damage to the nerves and muscles throughout the body, and is the result of the excessive buildup of glycogen in the cellular lysosome. This occurs because of the deficiency of a certain enzyme. The disease is the result of a genetic mutation that appears on chromosome 17. Symptoms of the illness vary depending on when it appears. They can include poor growth, trouble feeding, enlarged heart, poor muscle tone, muscle weakness, and breathing problems. There is also a late onset form that mostly differs by the absence of heart abnormalities. The primary treatment for Pompe disease is enzyme replacement. While this treatment can improve symptoms and survival, a high dosage is necessary and it primarily only halts disease progression. To learn more about Pompe disease, click here.
About The Study
Scientists have been seeking an explanation as to why patients do not respond to enzyme replacement in the same fashion; prior studies have suggested that changes to the DNA of the ACE gene could be responsible. The researchers recruited a group of 131 Pompe disease patients that included both pediatric and adult patients. The patients were categorized by their ACE gene polymorphisms into three groups: a deletion group, an insertion group, and a group that carried both deletions and insertions.
A patient’s condition over time while being treated was measured in a number of ways, such as the six minute walk test, lung and muscle functions, need for breathing assistance, and wheelchair usage. Patients were monitored for five years, but unfortunately no patterns emerged that implicated ACE polymorphisms as playing a role in enzyme replacement therapy response.
Check out the original study here.