Mutations in a gene called DCHS1 are believed to be at the root of a heart valve disorder called mitral valve prolapse, according to investigators at Massachusetts General Hospital. And understanding the way these mutations play out should help drug developers come up with new therapies to correct the condition.
"Understanding how defects in this gene cause errors in early valve formation can point to ways we can prevent the progression of this condition to keep the valve and the heart healthy and help the patient avoid complications," says Robert Levine, the co-senior author of the study, which appears in Nature. The other MGH co-senior author--Dr. David Milan of the MGH Cardiovascular Research Center--led studies of gene impact on the heart in zebrafish models.
The mitral valve, they say, is one of four valves that play a crucial role in managing the flow of blood through the heart. When it malfunctions, the valve fails to close properly, causing blood to seep backward.
Working first in zebra fish and later with family members known to share the same genetic risk, the investigators studied how the mutations interfere with the DCHS1 protein, which are responsible for organizing cells in tissue. And the team is investigating more such mutations that could also trigger the heart valve disorder.
"As a follow up, this same international network has been seeking other genes that cause MVP across the population, which should point us to common pathways that could be targets of therapies designed to prevent progression into symptomatic disease," noted Milan.
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