Genetic Studies Underway for Inherited Aneurysms
The progress made by Helena Kuivaniemi is remarkable, given the elusive nature of her subject. Dr. Kuivaniemi is performing genetic research related to candidate genes for abdominal aortic aneurysms (AAA). Why is this a problem? First, AAAs rarely produce symptoms until they rupture, and then survival rates are very low. Furthermore, few individuals develop aneurysms before the age of 50, and although aneurysms are hereditary, by the time an individual has been diagnosed, his or her parents have generally died and the children are still too young to be tested, making familial studies difficult.
Dr. Kuivaniemi has used scientific means to work around these problems and she is part of a national network gathering data to help families who may carry candidate genes for aneurysms. Her goal is to localize the chromosomal regions likely to harbor the AAA susceptibility genes. She collects DNA from AAA sibling-pair patients and their relatives and performs genetic linkage analysis using highly polymorphic markers from the promising regions. The goal is to identify the gene or genes that harbor mutations in patients with aneurysms.
“A familial tendency to develop aneurysms is well documented in patients with abdominal aortic aneurysms, but the genetic basis for this predisposition is unknown,” Dr. Kuivaniemi said. “There is an urgent need to study this problem because it occurs with no warning and few people are screened for it.”
An aneurysm is a balloon-like swelling in the wall of a weakened blood vessel. The chances of surviving a ruptured aneurysm are poor, but elective surgery can be performed if the aneurysm is caught early through regular ultrasound screening. Now that scientists have recognized this as an inherited disorder, more work is being done around the country. Wayne State University is one of seven centers funded by the National Heart, Lung and Blood Institute for aneurysm research.
While Dr. Kuivaniemi studies abdominal aortic aneurysms, her husband, Dr. Gerard Tromp studies intracranial aneurysms. They are looking for families to participate in their collaborative genetic studies by filling out a family history questionnaire, donating a small blood sample, and agreeing to be part of a national patient registry. For more information, visit their website at http://cmmg.biosci. wayne.edu/ags/