(Press-News.org) ROCHESTER, Minn. -- 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.
INFORMATION:
Other study authors are: Lia Crotti, M.D., Ph.D., University of Pavia, Pavia, Italy; David Tester, Wendy White, M.D., Melissa Will, Jennifer Blair, Daniel Van Dyke, Ph.D., Myra Wick, M.D., Ph.D., Brian Brost, M.D., all of Mayo Clinic; Daniel Bartos, Ellyn Velasco, Brian Delisle, Ph.D., all of University of Kentucky, Lexington; Robert Insolia, Ph.D., and Alice Ghidoni, both University of Pavia; Alessandra Besana, Ph.D., IRCCS Instituto Auxologico Italiano, Milan, Italy; Jennifer Kunic and Alfred L. George Jr., M.D., Vanderbilt University, Nashville, Tenn.; Irene Cetin, M.D., University of Milan, Italy; and Fabio Facchinetti, M.D., University of Modena and Reggio Emilia, Italy.
About Mayo Clinic
Mayo Clinic is a nonprofit worldwide leader in medical care, research and education for people from all walks of life. For more information, visit http://www.mayoclinic.com and http://www.mayoclinic.org/news.
Journalists can become a member of the Mayo Clinic News Network for the latest health, science and research news and access to video, audio, text and graphic elements that can be downloaded or embedded.
END
Cambridge, MA, April 9, 2013– BIND Therapeutics, a clinical-stage biopharmaceutical company developing a new class of highly selective targeted and programmable therapeutics called AccurinsTM, announced today that positive Phase 1 clinical data for BIND-014, the company's lead drug candidate, were presented today in an oral presentation at the American Association for Cancer Research (AACR) 2013 Annual Meeting.
Clinical investigators presented the Phase 1 results with BIND-014, its targeted docetaxel Accurin, in 28 heavily-pretreated patients with advanced or metastatic ...
Field trials and genetic studies have shown that a new variety of broccoli reliably yields higher levels of a health-promoting compound.
Broccoli contains a compound called glucoraphanin, which has been shown to promote health by maintaining cardiovascular health and a reduction in the risk of cancer. A long term breeding programme to increase glucoraphanin levels has resulted in the commercial release of Beneforté broccoli. Beneforté was developed by crossing standard broccoli with a wild relative derived from Sicily.
Publicly funded research to develop Beneforté broccoli ...
Johns Hopkins scientists have created a free, Web-based tool to help patients decide whether it's best to accept an immediately available, but less-than-ideal deceased donor kidney for transplant, or wait for a healthier one in the future.
Historically, the researchers say, it has been difficult, if not impossible, to accurately quantify the risk of accepting a deceased-donor kidney that may have been infected by hepatitis C, as compared to waiting what could be months or years for a better organ. There is a 5 to 15 percent chance of dying every year on the waiting list. ...
VIDEO:
New research has revealed that the use of Antimicrobial Copper surfaces in hospital rooms can reduce the number of healthcare-acquired infections by 58 percent as compared to patients treated in...
Click here for more information.
New York, NY (April 9, 2013)— New research has revealed that the use of Antimicrobial Copper surfaces in hospital rooms can reduce the number of healthcare-acquired infections (HAIs) by 58% as compared to patients treated in Intensive ...
Tumbling in the waves as they hit a rocky shore tells purple sea urchin larvae it's time to settle down and look for a spot to grow into an adult, researchers at the University of California, Davis, Bodega Marine Laboratory have found. The work is published April 8 in the journal Proceedings of the National Academy of Sciences.
"How these animals find their way to the right habitat is a fascinating problem," said Brian Gaylord, professor of evolution and ecology at UC Davis and a researcher at the Bodega Marine Lab. "The turbulence response allows them to tell that they're ...
Researchers at Moffitt Cancer Center and colleagues at the University of South Florida have found that when given together, a two-drug combination acts synergistically in test animals modeled with sarcoma tumors. They report that the drug combination of MK-1775 and gemcitabine resulted in a 70 percent decrease in the tumor volume when compared to receiving one drug or the other.
Their study was published in the March 8 online edition of PLOS ONE.
"Sarcomas are rare tumors affecting both children and adults, but sarcomas account for a greater number of pediatric cancers ...
The following highlights summarize research papers that have been recently published in Geophysical Research Letters (GRL), Space Weather (SW), Journal of Geophysical Research-Earth Surface (JGR-F), and Journal of Geophysical Research-Biogeosciences, (JGR-G).
In this release:
Characterizing the Moon's radiation environment
Three-dimensional mapping of airflow over dunes
Forest organic runoff breaks down faster than agricultural, urban runoff
Examining CO2¬ concentrations and flow dynamics in streams
Measuring the forces generated by erosive debris flows
Agulhas ...
ATLANTA – A potential new strategy to developing new drugs to control inflammation without serious side effects has been found by Georgia State University researchers and international colleagues.
Jian-Dong Li, director of Georgia State's Center for Inflammation, Immunity and Infection, and his team discovered that blocking a certain pathway involved in the biological process of inflammation will suppress it.
Inhibiting a molecule called phosphodiesterase 4B, or PDE4B, suppresses inflammation by affecting a key gene called CLYD, a gene that serves as a brake on inflammation.
The ...
MADISON – The age at which a child with autism is diagnosed is related to the particular suite of behavioral symptoms he or she exhibits, new research from the University of Wisconsin–Madison shows.
Certain diagnostic features, including poor nonverbal communication and repetitive behaviors, were associated with earlier identification of an autism spectrum disorder, according to a study in the April issue of the Journal of the American Academy of Child and Adolescent Psychiatry. Displaying more behavioral features was also associated with earlier diagnosis.
"Early ...
PROVIDENCE, R.I. – A study at Rhode Island Hospital has found that despite complications, patients co-infected with the pandemic 2009-2010 influenza A H1N1 (pH1N1) and a second respiratory virus were not associated with worse outcomes or admission to the hospital's intensive care unit. The study is published online in the journal PLOS ONE.
"There is scant data in the literature regarding the incidence and impact of simultaneous infection by two respiratory viruses, particularly in adults," said senior investigator Leonard Mermel, D.O., medical director of the department ...
