Deciphering the Role of a Gene and Aneurysm

R3895

Order now

The human body has a network of arteries and veins that connect organs to the heart. Arteries carry oxygenated blood (except the pulmonary artery that carries deoxygenated blood from heart to lungs). Sometimes, due to weakening of the blood vessel, there is an abnormal widening in a section of the artery. Scientifically, this condition is known as an aneurysm.

This test cannot be ordered as an individual test but only as a part of the list of diseases included in our Genetic Predisposition Test panel.

Aneurysms commonly occur in the following arteries

Aorta or the main artery
Brain-cerebral aneurysm
Leg-(popliteal artery aneurysm)
Intestine(mesenteric artery aneurysm)
Spleen(splenic artery aneurysm)

What causes an Aneurysm?

The causes of aneurysm can be divided into the following

Modifiable factors: Smoking, high cholesterol levels and hypertension are some modifiable factors that contribute to the formation of an aneurysm. Therefore, life-style modifications that include diet and regular exercise can reduce the chances of an aneurysm developing
Non-modifiable factors: Family history of aneurysm
Pregnancy: Pregnancy can lead to formation and rupture of the splenic artery aneurysm

To have a better understanding of the relationship between genetics and aneurysms, we can divide aneurysms to intracranial and abdominal aneurysm.

Intracranial aneurysm: Stroke is the outcome of intracranial aneurysm. Though there have been studies that correlated heredity with stroke, these studies relied on data collected by surveys, thereby failing to distinguish ischemic and hemorrhagic stroke. Framingham investigators investigated family history as a risk factor and concluded that targeting stroke prevention in individuals with parental history of stroke is important. Please see their finding hereunder:

Table: Data of relationship between genetics and stroke from Framingham Study

Abdominal aortic aneurysm (AAA)

Owing to the heterogeneity of aorta, the prevalence of abdominal aorta aneurysm is at least nine times higher than that in the thoracic section of the aorta. It typically affects males > 65 years.

In a recent animal study (2013), Golledge and Kuivaniemi identified genetic markers that increase the risk of abdominal aortic aneurysm. They are believed to be located within genes for DAB2 interacting protein (DAB2IP) and low density lipoprotein receptor-related protein 1 (LRP1).

In an early study, Johansen and Koepsel studied the relationship between genetics and AAA. They divided the subjects into twp groups:

Group1: 250 AAA probands of whom approximately 19% had a first-degree relative of history

Group2 (Control): 250 atherosclerotic occlusive diseases (AOD) with only 2% patients were relative with AAA.

A 12-fold increase in risk for the relatives of AAA probands was noted, thus relatives of AAA must be screened to ensure early diagnosis of AAA and thereby initiation of treatment.

Managing Aneurysm

The most effective mechanism of managing aneurysm is surgical treatments. Though these yield excellent results, there is a need to develop non-surgical methods. Major discoveries involving the genetic factors that lead to the development of aneurysm is needed for development of targeted drug.