for deadly aneurysm disease
Yale scientists have discovered a way to use a simple blood test that may accurately
detect thoracic aneurysm disease (TAA), which gives little warning and is
almost always fatal if untreated. — By Jacqueline Weaver
T H I S
SCHOOL OF MEDICINE NEWS
The study, published this month in Public Library of Science (PLoS), represents
the collaborative work of Yale School of Medicine, Applied Biosystems and Celera
Diagnostics.
TAAs occur in the part of the aorta that passes through the chest. They can
become huge without causing symptoms. In fact, only one in 20 patients has
symptoms before internal rupture occurs — making advance detection key
to treatment. Once the aneurysm ruptures, a person can go into shock and die
from internal bleeding. Currently, detection of these aneurysms is made by
relatively expensive tests such as a chest X-ray or CT scan — typically
when a patient is being evaluated for other conditions.
“A standardized blood-based test capable of detecting individuals at risk
for aneurysm disease would represent a major advance in clinical care,” says
Dr. John Elefteriades, section chief of cardiothoracic surgery. “This study
indicates we may be able to develop such a test.”
In this study, Elefteriades and his colleagues took blood samples from 58 persons
diagnosed with TAA disease and 36 spouses who did not have the disease. Using
a gene expression profiling technology, they identified a 41-gene signature
in blood cells that distinguishes TAA patients from those without the disease.
The gene expression signature and the prediction model were identified using
a complete workflow of instruments, reagents and software from Applied Biosystems.
These signature genes were further validated using TaqMan® real-time PCR
assays. The accuracy rate in various analyses is 78% to 85%.
“It has become increasingly evident that the immune system plays a pivotal
role in the development of aortic aneurysms,” Elefteriades says. “We
thus hypothesized that gene expression patterns in peripheral blood cells may
reflect TAA disease status.”
The next step, which the researchers say is underway, is validation in real-time
clinical studies. The investigative team is also interested in determining
if abdominal aneurysms share a similar RNA signature, and if the RNA can predict
rupture or dissection of an aneurysm.
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