Mutations in a gene that affects the growth of blood vessels in the brain of vertebrates can result in potentially deadly aneurysms in individuals, according to Yale School of Medicine researchers.

Nearly 3% of the human population is affected with saccular brain aneurysms. If they rupture, they can trigger subarachnoid hemorrhage, which is the most lethal type of intracranial hemorrhage. Every year, around 500,000 hemorrhagic strokes are reported globally; nearly one in every four victims die before reaching a hospital.

Predicting who is susceptible to such inherited kinds of intracranial aneurysms, on the other hand, has been extremely difficult. Moreover, until now, researchers have had difficulties identifying the genes that may raise the risk of aneurysms in people.

In their current study, researchers from Yale’s departments of neurosurgery, genetics, and cardiovascular medicine found the function of a gene called PPIL4 in intracranial aneurysms. The gene is known to be important in the formation of blood vessels in the growing vertebrate brain.

In the study, the researchers examined the genomes of over 300 patients with intracranial aneurysms for the study and discovered a significant increase in PPIL4 mutations when compared to the general population.

“Identifying inherited forms of intracranial aneurysms that have large effect sizes have been difficult to identify,” said one of the team leaders Murat Gunel.

“We are very excited to report such mutations in the PPIL4 gene, providing a unique insight on how these deadly lesions form.”

Unruptured aneursyms do not show any symptoms and are difficult to detect in standard clinical tests, making it difficult to identify individuals who would benefit from early treatment.

“The disease has never been associated with a developmental defect and this gene is like a time machine that allows us to look back and find the origins of the aneurysms,” said another lead author Stefania Nicoli.

“It is only one piece of the puzzle, but one that dramatically changes how we look at the disease.”

Aside from the genetic finding of PPIL4, the researchers discovered that a novel PPIL4-Wnt signaling pathway is required for brain vascular growth and integrity.

“Studies like ours not only provide a genetic and mechanistic window into disease pathogenesis but present a remarkable potential for new pathways in IA screening, early diagnosis, and treatment,” Ketu Mishra-Gorur added.

Source: Nature

Image Credit: Getty

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