Understanding Genetics of Aneurysms in Few May Point to Solutions for Many, says Doc

HAMILTON, Ontario - Sept. 12, 2013 - PRLog -- Better understanding of the genetic origins of some brain aneurysms may potentially lead to improved overall stroke prevention, a young researcher in Canada thinks.

Brain aneurysms are an acquired disease of the cerebral vessels and are present in 2 to 3 % of the general population, says Dr. Ivan Radovanovic, a Neurosurgery Professor at Toronto Western Hospital.

“These aneurysms have a propensity to rupture and cause a type of stroke called a subarachnoid haemorrhage. Although only 9 in 100,000 people experience an aneurysm rupture in a year, understanding and predicting aneurysm rupture is critical because of the frequently severe and potentially deadly outcome of such a stroke.”

While most aneurysms are sporadic, there are families in which the incidence of aneurysms is higher than in the general population. A few genetic conditions are linked to brain aneurysm formation. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one such genetic disease. Approximately 5 to7 % of young adults with ADPKD have a cerebral aneurysm. The frequency increases to 12-15% when a first degree relative has had a brain aneurysm or when the patient has a previous history of aneurysm rupture.

PKD1 and PKD2 genes that are mutated in Polycystic Kidney Disease (PKD) are likely to play a role in vessel biology and their dysfunction lead to aneurysm formation.

"It is helpful for ADPKD patients to be aware of their increased possibility of suffering a stroke due to an aneurysm and consult their doctor about getting screened for aneurysms," said Shiona Mackenzie-Morrison, Hamilton Chapter Coordinator for The PKD Foundation of Canada. "We are extremely fortunate to have a renowned medical expert join us to share his knowledge about aneurysms at our upcoming meeting at St. Joseph's in Hamilton on September 22."

Dr. Radovanovic’s presentation starts at 2pm.

According to Dr. Radovanovic, who joined the faculty of the Division of Neurosurgery at Toronto Western Hospital in January this year:  “Understanding the natural history and the biology of aneurysms in Polycystic Kidney Disease is important not only for this specific group of patients but also for the understanding of cerebral aneurysms in general. Mutations involved in PKD are one of the very few hints we have to start addressing the underlying molecular mechanisms involved in the vessel wall pathology leading to aneurysm formation.”

Dr. Radovanovic is also an Assistant Professor in the Department of Surgery at The University of Toronto. His research is focused on the surgical management of ruptured and unruptured aneurysms, Arteriovenous Malformations and dural arteriovenous fistulae, using minimally invasive techniques such as supraorbital and lateral supraorbital craniotomies. His research laboratory is within the Toronto Western Research Institute and focuses on the developmental signaling and genetics of cerebral arteriovenous malformations and brain tumors.

This presentation is part of an ongoing series of two-hour informational support meetings hosted by the Hamilton Chapter of The PKD Foundation of Canada. They are open to the public, free of charge and the venue is wheelchair accessible. Local street parking (free) and hospital parking (payment required) is available. Registration is not required.