Genetic Mutations That Lead To Brain Aneurysms


Hence, it is vital to identify the genes that trigger an increased risk of aneurysms in adults. The study team found that a specific gene — PPIL4 is responsible for creating blood vessels in the developing vertebrate brain.

On further analyzing over 300 genomes of the patients with intracranial aneurysms, it was revealed that there was a significant increase of PPIL4 mutations among these people when compared to the general population.

The study thereby offers a new window to look into the disease that is through developmental defects in the gene.

“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,” says Ketu Mishra-Gorur, a research scientist at the Yale School of Medicine.

Source: Medindia



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