Featured Research

from universities, journals, and other organizations

First genetic mutation linked to heart failure in pregnant women

Date:
June 21, 2011
Source:
Intermountain Medical Center
Summary:
Researchers 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.

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.


Story Source:

The above story is based on materials provided by Intermountain Medical Center. Note: Materials may be edited for content and length.


Journal Reference:

  1. B. D. Horne, K. D. Rasmusson, R. Alharethi, D. Budge, K. D. Brunisholz, T. Metz, J. F. Carlquist, J. J. Connolly, T. F. Porter, D. L. Lappe, J. B. Muhlestein, R. Silver, J. Stehlik, J. J. Park, H. T. May, T. L. Bair, J. L. Anderson, D. G. Renlund, A. G. Kfoury. Genome-wide Significance and Replication of the Chromosome 12p11.22 Locus Near the PTHLH Gene for Peripartum Cardiomyopathy. Circulation: Cardiovascular Genetics, 2011; DOI: 10.1161/CIRCGENETICS.110.959205

Cite This Page:

Intermountain Medical Center. "First genetic mutation linked to heart failure in pregnant women." ScienceDaily. ScienceDaily, 21 June 2011. <www.sciencedaily.com/releases/2011/06/110621141853.htm>.
Intermountain Medical Center. (2011, June 21). First genetic mutation linked to heart failure in pregnant women. ScienceDaily. Retrieved October 21, 2014 from www.sciencedaily.com/releases/2011/06/110621141853.htm
Intermountain Medical Center. "First genetic mutation linked to heart failure in pregnant women." ScienceDaily. www.sciencedaily.com/releases/2011/06/110621141853.htm (accessed October 21, 2014).

Share This



More Health & Medicine News

Tuesday, October 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

CDC Revamps Ebola Guidelines After Criticism

CDC Revamps Ebola Guidelines After Criticism

Newsy (Oct. 21, 2014) The Centers for Disease Control and Prevention have issued new protocols for healthcare workers interacting with Ebola patients. Video provided by Newsy
Powered by NewsLook.com
First-Of-Its-Kind Treatment Gives Man Ability To Walk Again

First-Of-Its-Kind Treatment Gives Man Ability To Walk Again

Newsy (Oct. 21, 2014) A medical team has for the first time given a man the ability to walk again after transplanting cells from his brain onto his severed spinal cord. Video provided by Newsy
Powered by NewsLook.com
CDC Issues New Ebola Guidelines for Health Workers

CDC Issues New Ebola Guidelines for Health Workers

Reuters - US Online Video (Oct. 21, 2014) The U.S. Centers for Disease Control and Prevention has set up new guidelines for health workers taking care of patients infected with Ebola. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
'Cadaver Dog' Sniffs out Human Remains

'Cadaver Dog' Sniffs out Human Remains

AP (Oct. 21, 2014) Where's a body buried? Buster's nose can often tell you. He's a cadaver dog, specially trained to find human remains and increasingly being used by law enforcement and accepted in courts. These dogs are helping solve even decades-old mysteries. (Oct. 21) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins