Gene Study Unravels Pathway Leading To Mitral Valve Prolapse

Susan A. Slaugenhaupt PhD Professor of Neurology, Harvard Medical School Associate Geneticist, Department of Neurology, Molecular Neurogenetics Unit Center for Human Genetic Research Massachusetts General Hospital MedicalResearch.com Interview with:
Susan A. Slaugenhaupt PhD
Professor of Neurology,
Harvard Medical School
Associate Geneticist, Department of Neurology,
Molecular Neurogenetics Unit
Center for Human Genetic Research
Massachusetts General Hospital

 

Medical Research: What is the background for this study? What are the main findings?

Dr. Slaugenhaupt: Mitral valve prolapse (MVP) is one of the most common human diseases affecting 1 out of every 40 people worldwide. The mitral valve is found between two chambers of the heart, and mitral valve prolapse results when the valve does not close properly. By studying families in which multiple members have mitral valve prolapse, we have identified a biological explanation for the disease. Mutations in the DCHS1 gene cause mitral valve prolapse in three families, and suggest that early defects in heart valve formation during development contribute to the progressive deterioration of the valve.

Medical Research: What should clinicians and patients take away from your report?

Dr. Slaugenhaupt: Although defects in this gene are rare in mitral valve prolapse, our study highlights a biological pathway that when disrupted leads to disease. It will help us identify ways that we can prevent the progression of the disease and keep the valve and the heart healthy.

Medical Research: What recommendations do you have for future research as a result of this study?

Dr. Slaugenhaupt: We have much work left to do, but this study represents a critical first step towards unraveling this disease, and to ultimately developing treatments.

Citation:

Susan A. Slaugenhaupt et al. Mutations in DCHS1 cause mitral valve prolapse. Nature, August 2015 DOI: 10.1038/nature14670

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Susan A. Slaugenhaupt PhD (2015). Gene Study Unravels Pathway Leading To Mitral Valve Prolapse