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Whole-genome study at Johns Hopkins reveals a new gene associated with abnormal heart rhythm

showed up more frequently in people who have longer or shorter QT intervals than in those with normal QT intervals. To do this, they examined the DNA sequences of both long and short QT people. The human genome contains 3 billion letters, known as nucleotides. Each person's genome differs from the next person's by as many as 10 million nucleotides. The researchers looked for single nucleotide variations - known as single nucleotide polymorphisms, or SNPs for short - that track with having a long or short QT interval.

Only one particular SNP correlated with QT interval. That SNP was found near the NOS1AP gene, which has been studied for its function in nerve cells and was not previously suspected to play a role in heart function. However, the research team found that the NOS1AP gene is turned on in the left ventricle of the human heart. And the "lub" part of the "lub-dub" heartbeat corresponds to ventricular contraction. So NOS1AP is active in the right place and time to play a role in QT interval.

Further studies revealed that approximately 60 percent of people of European descent may carry at least one copy of this SNP in the NOS1AP gene. According to the researchers, this particular SNP is responsible for up to 1.5 percent of the difference in QT interval, meaning that other genes, missed in this study, certainly contribute to QT length.

Now that researchers know that variants of the NOS1AP gene correlate with QT interval length, they hope to figure out exactly how the DNA sequence variations alter the function of the gene, and how changes in gene function affects heart rhythm.


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Source:Johns Hopkins Medical Institutions


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