Featured Research

from universities, journals, and other organizations

Specific Genetic Mutations May Contribute To Preterm Birth Risk

Date:
February 1, 2008
Source:
University of Pittsburgh Schools of the Health Sciences
Summary:
Genetic mutations in an enzyme related to amino acid metabolism called MTHFR and coagulation protein Factor V appear to have significant association with blood clots and tissue injury to the placenta and developing baby, researchers from the University of Pittsburgh's department of obstetrics, gynecology and reproductive sciences report. "This indicates a possible genetic predisposition to a condition of real clinical consequence in terms of intrauterine growth restriction, preeclampsia and spontaneous preterm birth," the researchers said.

Genetic mutations in the enzyme methylenetetrahydrofoloate reductase (MTHFR) and coagulation protein Factor V appear to have significant association with blood clots and tissue injury to the placenta and developing baby, researchers from the University of Pittsburgh's department of obstetrics, gynecology and reproductive sciences report at the 28th annual meeting of the Society for Maternal-Fetal Medicine.

Related Articles


"This indicates a possible genetic predisposition to a condition of real clinical consequence in terms of intrauterine growth restriction, preeclampsia and spontaneous preterm birth," said Hyagriv Simhan, M.D., assistant professor of obstetrics, gynecology and reproductive sciences at the University of Pittsburgh School of Medicine, who is presenting the work. "These are conditions that can have lifelong consequences for those affected."

MTHFR is an enzyme related to amino acid metabolism. Intrauterine growth restriction results in malnutrition of the developing fetus and babies of low birth weight and can be related to a host of factors usually reflective of the mother's health, including infection, high blood pressure, use of tobacco, alcohol or illicit drugs.

For the study, researchers analyzed DNA from placental tissue samples and cord blood from 111 women and their babies, finding that one fetal single nucleotide polymorphism (SNP) in MTHFR (rs17421462) and one fetal SNP in Factor V (rs10489185) demonstrated "highly significant association with thrombotic and inflammatory lesions," irrespective of adjustment for maternal race, smoking and lower genital tract infection, all of which can contribute to genetic mutation. Women and babies with MTHFR mutation were 4.2 times more likely to exhibit blood clots and injury to placental tissue than those without the mutation, Dr. Simhan noted. For those with Factor V mutation, the association was less pronounced, but still elevated.

"These are different mutations than those that have been previously described in MTHFR and Factor V," continued Dr. Simhan. "Being aware of these genetic mutations may lead to better screening efforts."

Defined as any birth prior to 37 weeks gestation, preterm birth affects some 12 percent of pregnancies in the United States. Costs have been estimated at $26 billion, or $52,000 per infant, in medical care and lost productivity as of 2005, according to The Institute of Medicine. A recent study from the U.S. Centers for Disease Control and Prevention found that preterm birth contributed to more than a third of infant deaths -- twice as many as previously thought and making it the leading cause of infant deaths -- yet the underlying causes of premature birth remain poorly understood.

More than 500,000 babies are born too soon each year nationwide, and the preterm birth rate has increased more than 30 percent since 1981. Babies who do survive face risks of lifelong challenges related to cerebral palsy, mental retardation, chronic lung disease, and vision and hearing loss, as well as other developmental problems.


Story Source:

The above story is based on materials provided by University of Pittsburgh Schools of the Health Sciences. Note: Materials may be edited for content and length.


Cite This Page:

University of Pittsburgh Schools of the Health Sciences. "Specific Genetic Mutations May Contribute To Preterm Birth Risk." ScienceDaily. ScienceDaily, 1 February 2008. <www.sciencedaily.com/releases/2008/01/080131151903.htm>.
University of Pittsburgh Schools of the Health Sciences. (2008, February 1). Specific Genetic Mutations May Contribute To Preterm Birth Risk. ScienceDaily. Retrieved March 4, 2015 from www.sciencedaily.com/releases/2008/01/080131151903.htm
University of Pittsburgh Schools of the Health Sciences. "Specific Genetic Mutations May Contribute To Preterm Birth Risk." ScienceDaily. www.sciencedaily.com/releases/2008/01/080131151903.htm (accessed March 4, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Wednesday, March 4, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Mom Triumphs Over Tragedy, Helps Other Families

Mom Triumphs Over Tragedy, Helps Other Families

AP (Mar. 3, 2015) After her son, Dax, died from a rare form of leukemia, Julie Locke decided to give back to the doctors at St. Jude Children&apos;s Research Hospital who tried to save his life. She raised $1.6M to help other patients and their families. (March 3) Video provided by AP
Powered by NewsLook.com
Looted and Leaking, South Sudan's Oil Wells Pose Health Risk

Looted and Leaking, South Sudan's Oil Wells Pose Health Risk

AFP (Mar. 3, 2015) Thick black puddles and a looted, leaking ruin are all that remain of the Thar Jath oil treatment facility, once a crucial part of South Sudan&apos;s mainstay industry. Duration: 01:13 Video provided by AFP
Powered by NewsLook.com
Woman Convicted of Poisoning Son

Woman Convicted of Poisoning Son

AP (Mar. 3, 2015) A woman who blogged for years about her son&apos;s constant health woes was convicted Monday of poisoning him to death by force-feeding heavy concentrations of sodium through his stomach tube. (March 3) Video provided by AP
Powered by NewsLook.com
Treadmill Test Can Predict Chance Of Death Within A Decade

Treadmill Test Can Predict Chance Of Death Within A Decade

Newsy (Mar. 2, 2015) Johns Hopkins researchers analyzed 58,000 heart stress tests to come up with a formula that predicts a person&apos;s chances of dying in the next decade. Video provided by Newsy
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