Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

First genetic mutation linked to heart failure in pregnant women

22.06.2011
Medical Center Research Team Finds First Genetic Mutation Linked to Heart Failure in Pregnant Women

Researchers at the Intermountain Medical Center Heart Institute have identified the first genetic mutation ever associated with a mysterious and potentially devastating form of heart disease that affects women in the final weeks of pregnancy or the first few months after delivery.

The disease, peripartum cardiomyopathy (PPCM), weakens a woman’s heart so that it no longer pumps blood efficiently. The disease is relatively rare, affecting about one in 3,000 to 4,000 previously healthy American women. Most PPCM patients are treated with medicine, but about 10 percent require a heart transplant or mechanical heart-assist device to survive. The cause of PPCM has been unknown.

“This is an important breakthrough,” said Benjamin Horne, PhD, director of cardiovascular and genetic epidemiology at Intermountain Medical Center and lead researcher for the study, which has just been published in the online edition of Circulation: Cardiovascular Genetics and will soon appear in the print edition of the journal.

“Until now, no one has identified a genetic link to the disease. This gives us and other researchers a roadmap that tells us where to look in the human genome for more information about the disease,” said Dr. Horne. “Someday this may lead to early testing during pregnancy that can identify women who are at risk for peripartum cardiomyopathy. We may be able to reduce or even prevent some of the complications of this disease.”

The research team gathered DNA samples at Intermountain Medical Center from 41 women in their 20s and 30s who had suffered from PPCM. They also took samples from 49 women who were over age 75 and had never experienced cardiac problems. The samples were sent for testing to a lab in Iceland, which used a special credit-card size device covered with 550,000 tiny dots of protein that, when mixed with human DNA, can isolate genetic mutations.

“The initial testing was a fishing expedition,” said Dr. Horne. “We didn’t know what genes or mutations in the human genome lead to PPCM, so we were just going to test anything out there and see what popped up,” he said.

To the group’s surprise, the testing found that about two-thirds of the women with PPCM shared a genetic mutation on chromosome 12. So they performed a second round of testing in a different set of patients — again, one group of women with PPCM and a control group of older women who had never experienced heart problems. This time, a second control group of younger women was also evaluated. The results of the second round mirrored the first. So they did it again with a third healthy group of women.

In the end, all three sets of tests confirmed their first finding: Women with PPCM in the study were about two-and-a-half times more likely than healthy women to carry the genetic mutation. In the world of medicine and genetics, that’s a significant finding, said Dr. Horne.

“It turns out that the mutation on chromosome 12 is located near a gene that is a good candidate for pregnancy-related cardiomyopathy,” said Dr. Horne. “That gene has been shown to be involved in regulating blood pressure and muscle contraction in the uterus and the heart.”

The research group from Intermountain Medical Center is already moving forward with new studies that aim to build on this discovery and help women who develop this devastating condition.

Other lead researchers on the project included cardiologists Abdallah Kfoury, MD, and Rami Alharethi MD, and nurse practitioner Kismet Rasmusson, all from Intermountain Medical Center. Almost 20 researchers were involved, primarily from Intermountain’s Heart Institute but also from Intermountain’s Maternal Fetal Medicine program, the University of Utah, and the VA Hospital.

This study was supported in part by grants from the R. Harold Burton Foundation and the Deseret Foundation.

Bryan Packer | EurekAlert!
Further information:
http://intermountainhealthcare.org

Further reports about: DNA Heart Medical Wellness genetic mutation human genome

More articles from Life Sciences:

nachricht Could this protein protect people against coronary artery disease?
17.11.2017 | University of North Carolina Health Care

nachricht Microbial resident enables beetles to feed on a leafy diet
17.11.2017 | Max-Planck-Institut für chemische Ökologie

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: A “cosmic snake” reveals the structure of remote galaxies

The formation of stars in distant galaxies is still largely unexplored. For the first time, astron-omers at the University of Geneva have now been able to closely observe a star system six billion light-years away. In doing so, they are confirming earlier simulations made by the University of Zurich. One special effect is made possible by the multiple reflections of images that run through the cosmos like a snake.

Today, astronomers have a pretty accurate idea of how stars were formed in the recent cosmic past. But do these laws also apply to older galaxies? For around a...

Im Focus: Visual intelligence is not the same as IQ

Just because someone is smart and well-motivated doesn't mean he or she can learn the visual skills needed to excel at tasks like matching fingerprints, interpreting medical X-rays, keeping track of aircraft on radar displays or forensic face matching.

That is the implication of a new study which shows for the first time that there is a broad range of differences in people's visual ability and that these...

Im Focus: Novel Nano-CT device creates high-resolution 3D-X-rays of tiny velvet worm legs

Computer Tomography (CT) is a standard procedure in hospitals, but so far, the technology has not been suitable for imaging extremely small objects. In PNAS, a team from the Technical University of Munich (TUM) describes a Nano-CT device that creates three-dimensional x-ray images at resolutions up to 100 nanometers. The first test application: Together with colleagues from the University of Kassel and Helmholtz-Zentrum Geesthacht the researchers analyzed the locomotory system of a velvet worm.

During a CT analysis, the object under investigation is x-rayed and a detector measures the respective amount of radiation absorbed from various angles....

Im Focus: Researchers Develop Data Bus for Quantum Computer

The quantum world is fragile; error correction codes are needed to protect the information stored in a quantum object from the deteriorating effects of noise. Quantum physicists in Innsbruck have developed a protocol to pass quantum information between differently encoded building blocks of a future quantum computer, such as processors and memories. Scientists may use this protocol in the future to build a data bus for quantum computers. The researchers have published their work in the journal Nature Communications.

Future quantum computers will be able to solve problems where conventional computers fail today. We are still far away from any large-scale implementation,...

Im Focus: Wrinkles give heat a jolt in pillared graphene

Rice University researchers test 3-D carbon nanostructures' thermal transport abilities

Pillared graphene would transfer heat better if the theoretical material had a few asymmetric junctions that caused wrinkles, according to Rice University...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Ecology Across Borders: International conference brings together 1,500 ecologists

15.11.2017 | Event News

Road into laboratory: Users discuss biaxial fatigue-testing for car and truck wheel

15.11.2017 | Event News

#Berlin5GWeek: The right network for Industry 4.0

30.10.2017 | Event News

 
Latest News

NASA detects solar flare pulses at Sun and Earth

17.11.2017 | Physics and Astronomy

NIST scientists discover how to switch liver cancer cell growth from 2-D to 3-D structures

17.11.2017 | Health and Medicine

The importance of biodiversity in forests could increase due to climate change

17.11.2017 | Studies and Analyses

VideoLinks
B2B-VideoLinks
More VideoLinks >>>