Knockin Mice Used To Discover Cause Of Mitral Valve Prolapse
DZIP1 Knockin Mouse Model
A new mouse model of mitral valve prolapse, a common heart disease, was used to find a potential cause for this disease in humans. Characterized by a “clicking” sound in the chest and regurgitation of blood in the left atrium of the heart, this heart complication previously did not have any known causes. Scientists at the Medical University of South Carolina (MUSC) came to the conclusion that a mutation in DZIP1, which regulates cilia function, had a direct link to mitral valve prolapse. This mutation was discovered through the analysis of multiple generations of a family with a history of the disease. To further investigate this, scientists used CRISPR to knock in the familial mutation and create a new mouse model. This mutation did in fact cause the disease in mice and it was found that progression of mitral valve prolapse begins in the fetus, as this genetic variation in the heart valve cells impaired the development of proper cilia.
In the future, the research team plans to use this same mutant mouse model to further study how mitral valve prolapse progresses in mice in order to apply this knowledge to humans. They also suggest that anyone who has this disease seek treatment sooner rather than later, as early intervention may result in less complications over time.
Click here to read the full study in Science Translational Medicine.