CRISPR gene editing used to confirm the discovery of a genetic mutation linked to aortic rupture

Washington University School of Medicine Press Release, 18 July 2016

Researchers at the Washington University School of Medicine in St. Louis have identified a mutation that leads to increased risk of aortic rupture.  Sequencing of a family that lacked a genetic reason for their history of heart disease found an error in the lysyl oxidase (LOX) gene, which has been implicated in the formation of connective tissue fibers in blood vessels.  To confirm that the LOX mutation was responsible for the family’s heart disease, researchers used CRISPR/Cas9 gene editing to knockout the LOX gene in mice.  Mice containing a homozygous knockout died at birth due to aortic rupture, while heterozygous individuals had disrupted collagen and elastin fibers in the aorta like the family originally studied.

Author: Advanced Analytical

Advanced Analytical Technologies, Inc. (AATI) simplifies complex genomics workflows to accelerate research and discovery in pharmaceuticals, life science, biofuels, biotechnology and healthcare.

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