Early developmental gene can cause deadly aneurysms

Mutations of a gene that regulates formation of blood vessels in the brain of vertebrates can lead to potentially deadly aneurysms in adults, Yale School of Medicine researchers report in the December. Saccular brain aneurysms affect nearly 3% of the human population. If they rupture, it can cause subarachnoid hemorrhage, the deadliest type of intracranial hemorrhage. Approximately 500,000 hemorrhagic strokes are reported annually worldwide; nearly one in four victims die before reaching the hospital. Predicting who might be vulnerable to such inherited forms of intracranial aneurysms, however, has been notoriously difficult. And until now, researchers have had difficulty identifying the genes that might trigger an increased risk of aneurysms in adults. In the new study, researchers from the Yale's departments of neurosurgery, genetics and cardiovascular medicine identified the role of a gene, named PPIL4, in intracranial aneurysms.