In a first-of-its-kind study, researchers from the United States and Europe discovered genetic mutations associated with long QT syndrome (LQTS), a genetic abnormality in the heart's electrical system, in a small number of intrauterine fetal deaths, according to a study in the April 10 issue of the Journal of the American Medical Association.
Researchers conducted a molecular genetic evaluation (referred to as a postmortem cardiac channel molecular autopsy) in 91 cases of unexplained fetal death (stillbirths) from 2006-2012. They discovered the prevalence of mutations in the three most common LQTS-susceptible genes, KCNQ1, KCNH2 and SCN5A. Two of the most common genes were discovered in three cases (KCNQ1 and KCNH2); and five of the cases exhibited SCN5A rare non-synonymous genetic variants.
Intrauterine fetal death or still birth happens in approximately one out of every 160 pregnancies and accounts for 50 percent of all perinatal deaths. "We know that the post-mortem evaluation often has not been able to explain these deaths," says Michael J. Ackerman, M.D., Ph.D., pediatric cardiologist at Mayo Clinic and co-study senior author along with Peter J. Schwartz, M.D., Ph.D., of the University of Pavia, Italy. "Those of us who study LQTS and treat LQTS patients have often wondered whether LQTS may be the cause of some of these deaths."
In the study, more than 1,300 ostensibly healthy individuals served as controls. In addition, publicly available exome (the entire portion of the genome consisting of protein-coding sequences) databases were assessed for the general population frequency of identified genetic variances.
"Our preliminary evidence suggests that LQTS may be the cause for approximately 5 percent of otherwise unexplained stillbirths and points to the need for further large-scale studies," says Dr. Ackerman, director of Mayo's LQTS Clinic and Windland Smith Rice Cardiovascular Genomics Research Professor. "With LQTS, when we know of its presence, it is a very treatable condition but still more work needs to be done to prevent the family's first tragedy from occurring."
In LQTS, which affects one in 2,000 people, the rapid heartbeats can trigger a sudden fainting spell, seizure, or sudden death. Life-threatening cardiac arrhythmias can occur unexpectedly, mainly during childhood or adolescence. Treatment can involve medication, medical devices, or surgery.
Mayo Clinic: http://www.mayoclinic.org/news
This press release was posted to serve as a topic for discussion. Please comment below. We try our best to only post press releases that are associated with peer reviewed scientific literature. Critical discussions of the research are appreciated. If you need help finding a link to the original article, please contact us on twitter or via e-mail.
The largest specimen among Earth's first flying vertebrates boasted a 10-metre wingspan, dwarfing modern-day giants Continue reading...
How can creatures as different in body and mind as present-day humans and their extinct Neanderthal cousins be 99.84 percent identical genetically?
A mile deep expedition using robots has discovered three ships that sank off the coast of Galveston centuries ago. Archeologists are still unsure of why the vessels sunk.
Scientists based their technique on the one used to create the sheep Dolly years ago. These cells might one day be useful in treating all sorts of diseases.
It turns out the first chili peppers were grown by humans in eastern Mexico. And it's not the same region where beans and corn were first grown, according to new ways of evaluating evidence.
A team of international scientists have found four species of insects with reversed sex organs. The females' anatomy may have to do with their need for nutrients that only males produce.
For all but the shyest of wallflowers, moving to music is a natural human response. But what is it about a catchy tune that makes us groove? Scientists think they've figured out at least part of the recipe: just the right mix of regular rhythms and unexpected beats.
Artists' brains are structurally different to non-artists in areas relating to fine motor movements and visual imagery, a study finds.
Information about who suspects call and when is helping police work out who is linked to which crimes and even their place in the criminal hierarchy
The lead scientist behind a revolutionary method to turn adult cells into stem cells has been found guilty of misconduct, but insists the mistakes were unintentional