Although calcification of the aortic valve is the third leading cause of heart disease in adults, a genetic basis has remained unknown until now. Researchers have identified the genetic mutations that can produce a spectrum of cardiac abnormalities of this type. Their findings appear online in Nature.
Deepak Srivastava and colleagues investigated the influence of mutations in the transcriptional regulator NOTCH1, and found that these caused heart valve defects in mice. By interacting with other proteins, NOTCH appears to have a role in the proper development of the aortic valve and the prevention of valve calcification over time. Scientists have studied the human NOTCH1 sequence for many years, but this represents the first time that they have linked inherited mutations in this gene with a disease.
Deepak Srivastava (University of California San Francisco, USA)
(C) Nature press release.
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