Researchers narrow in on genetic factors that cause preterm birth

July 12, 2018, Public Library of Science
Researchers narrow in on genetic factors that cause preterm birth. Credit: Laikipia, Pixabay, (CC0 Creative Commons)

Mutations in a gene involved in steroid signaling likely contribute to preterm birth, report Johanna Huusko of the University of Oulu and Cincinnati Children's Hospital Medical Center and colleagues, in a study of European women who had experienced at least one early delivery. The researchers report their findings July 12th in PLOS Genetics.

Preterm birth, which occurs before 37 weeks, is a leading cause of infant mortality and can cause developmental delays and problems with learning, vision and hearing that persist into adulthood. Behavioral factors, such as smoking, drinking and stress can all contribute to early labor, but despite numerous studies, the genetic factors that increase the odds of preterm birth are poorly understood. Huusko and her colleagues attempted to identify potentially damaging genetic variants in mothers from families with a history of unexplained preterm births. They sequenced all of the DNA that holds instructions for making proteins from 17 Finnish mothers and 93 pairs of Danish sisters and discovered that a few women from both groups carried mutations in a gene called HSPA1L. This gene codes for a "" that helps new proteins to fold correctly, and prevents proteins from clumping together inside cells. Additional experiments in cell cultures showed these mutations likely interfere with proper functioning of the chaperone within the cells that line the uterus, as they prepare for and maintain a pregnancy.

Mutations in HSPA1L are rare, even in this population of mothers with a history of preterm birth. But the discovery can help point researchers toward related signaling pathways, whose disruption may be contributing to early births. HSPA1L is involved in a steroid signaling pathway where it helps tamp down inflammation and suppress the immune system. Overall, the findings suggest that future studies should investigate steroid signaling as a possible factor in whether a woman delivers early, or carries a baby to term.

The authors add: "Defining genetic contributors to preterm risk has proven challenging for many reasons—heterogeneous causes that increase risk and the added complexity of two interacting genomes, the mother and the fetus. A strength in this study is the family-based design which can further refine the list of contributing rare variants. HSPA1L is a very plausible, and now well supported, risk modifier for , but not one that we paid attention to before this work."

Explore further: CDC: Preterm births increased in US during 2014-2016

More information: Huusko JM, Karjalainen MK, Graham BE, Zhang G, Farrow EG, Miller NA, et al. (2018) Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth. PLoS Genet 14(7): e1007394. doi.org/10.1371/journal.pgen.1007394

Related Stories

CDC: Preterm births increased in US during 2014-2016

June 13, 2018
(HealthDay)—During 2014 to 2016, the rate of preterm births in the United States increased, according to a June data brief published by the U.S. Centers for Disease Control and Prevention's National Center for Health Statistics ...

Risk of preterm birth reliably predicted by new test

May 24, 2018
Scientists at UC San Francisco have developed a test to predict a woman's risk of preterm birth when she is between 15 and 20 weeks pregnant, which may enable doctors to treat them early and thereby prevent severe complications ...

Maternal age over 40 is associated with an increased risk of preterm birth

January 31, 2018
Pregnant mothers aged 40 and over may have an increased risk for preterm birth, regardless of confounding factors, according to a study published January 31, 2018 in the open-access journal PLOS ONE by Florent Fuchs from ...

Mothers who smoke and give birth preterm more than triple their CVD risk

July 8, 2015
Mothers who smoke and have a preterm birth more than triple their risk of cardiovascular disease (CVD), according to research in more than 900 000 mothers published today in the European Journal of Preventive Cardiology. ...

Study finds variation of the interval between first and second pregnancy

February 2, 2015
In a study to be presented on Feb. 5 in an oral concurrent session at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting in San Diego, researchers will report that the variation of interval from ...

Mother's family history could pose risk for preterm birth

April 27, 2017
If a pregnant mother has a family history of premature birth, she is at risk for a preterm birth of her baby, according to a new study by researchers from Ben-Gurion University of the Negev (BGU) and Soroka University Medical ...

Recommended for you

Analytical tool predicts genes that can cause disease by producing altered proteins

July 19, 2018
Predicting genes that can cause disease due to the production of truncated or altered proteins that take on a new or different function, rather than those that lose their function, is now possible thanks to an international ...

Childhood stress leaves lasting mark on genes

July 18, 2018
Kids who experience severe stress are more likely to develop a host of physical and mental health problems by the time they reach adulthood, including anxiety, depression and mood disorders. But how does early life stress ...

Study shows DNA methylation related to liver disease among obese patients

July 18, 2018
DNA methylation is a molecular process that helps enable our bodies to repair themselves, fight infection, get rid of environmental toxins, and even to think. But sometimes this process goes awry.

Protein found to be key component in irregularly excited brain cells

July 17, 2018
In a new study in mice, researchers have identified a key protein involved in the irregular brain cell activity seen in autism spectrum disorders and epilepsy. The protein, p53, is well-known in cancer biology as a tumor ...

World's largest study on allergic rhinitis reveals new risk genes

July 17, 2018
An international team of scientists led by Helmholtz Zentrum München and University of Copenhagen has presented the largest study so far on allergic rhinitis in the journal Nature Genetics. The data of nearly 900,000 participants ...

New platform poised to be next generation of genetic medicines

July 16, 2018
A City of Hope scientist has discovered a gene-editing technology that could efficiently and accurately correct the genetic defects that underlie certain diseases, positioning the new tool as the basis for the next generation ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.