According to Dr. Lynn Sakai, a biochemist and researcher from Shriners Hospital for Children, the original goal of this study was to provide better management of aortic disease for children and adults with Marfan syndrome, a life-threatening genetic disorder that puts people at up to 250 times increased risk of aortic dissection as compared to the general public. Dr. Sakai, whose research group first cloned the gene for fibrillin-1 (the Marfan gene), initiated the current research with funding from The Marfan Foundation and Shriners Hospitals for Children. Additional funding was secured from the National Heart, Lung, and Blood Institute.
“These findings are significant for public health because they represent the first human data to show that fibrillin-1 in blood could be a biomarker for thoracic aortic aneurysm and dissection,” said Dr. Lynn Marshall, an epidemiologist from Oregon Health& Science University and the lead author of the study.
In the future, promising biomarker tests may be used in the hospital emergency department to facilitate the diagnosis of aortic dissection or in the doctor’s office during a routine physical exam to uncover signs of developing aneurysmal disease. These tests could benefit patients with Marfan syndrome, as well as those with Loeys-Dietz syndrome, vascular Ehlers Danlos syndrome, and familial thoracic aortic aneurysm and dissection.
“This is an excellent example of h
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