The University of Texas Health Science Center, Houston scientists have discovered a single gene defect that can cause stroke and deadly diseases of the aorta and coronary arteries.
The research team led by Dianna Milewicz, professor and director of the Division of Medical Genetics at The University of Texas Medical School at Houston has found that mutations in smooth muscle alpha-actin (ACTA2) cause early onset coronary artery disease, stroke and moyamoya disease, along with thoracic aortic aneurysms and dissections.
"If someone is found to have an alteration or mutation in this gene, we can do screening for vascular diseases, and if diagnosed with disease, they can take medications and undergo surgical approaches to prevent premature death or disability," said Milewicz.
The research team hopes that the new discovery opens new ways of looking at the vascular system.
"We need to look at the artery system as a continuous system or organ," said Milewicz.
"We've been looking at it the wrong way. If you have this particular genetic mutation, it can present in several different diseases affecting different arteries," she added.
During the study, the researchers examined 127 members of 20 families from around the world who had ACTA2 mutations.
They found that 76 mutation carriers suffered from premature thoracic aortic aneurysms and dissections, 26 had premature coronary artery disease, 15 had ischemic stroke, including Moyamoya disease, and 15 had more than one vascular disease.
In four families, members younger than age 20 suffered a stroke and five strokes resulted from Moyamoya disease, a rare stroke disease in which the internal carotid arteries become occluded.
The study appears in the American Journal of Human Genetics.