JUL 25, 2016 11:03 AM PDT

A Cause of Developmental Defects is Identified

WRITTEN BY: Carmen Leitch
Reporting in the journal Development, researchers at the Victor Chang Cardiac Research Institute have identified a cause of several types of birth defects that are triggered by environmental factors. The scientists think their breakthrough discovery indicates that cellular stress could have a major influence on congenital defects of a variety of organ systems like the kidney and heart.
The short video above explains what congenital heart disease is; it affects about one in a hundred babies and is the most common human birth defect. Only a small number of these cases have an obvious genetic cause, as environmental stress can induce the disease.

The investigators have studied how short-term oxygen deficiency affects heart development in an embryo by using a mouse model. "We obviously know that smoking is terrible for an unborn baby's health. But oxygen deficiency in an embryo can be caused by many things, for example prescription medications, high blood pressure, high altitude, a tangled umbilical cord, as well as carbon monoxide," said Professor Sally Dunwoodie, Head of the Embryology Laboratory at the Victor Chang Institute and senior author of the work.

The mice were exposed to oxygen levels that were as low as 5.5 percent of normal for eight hours.
The results demonstrated, for the first time, that low levels of oxygen are damaging to the developing heart. Importantly, the kinds of heart defects the investigators observed were like those that are most commonly found in humans. The research team has also figured out the way in which the low oxygen caused dysfunction in the developing heart.
A frontal section of a mouse heart at embryonic day 17.5 showing normal anatomy, which can be disrupted by short-term exposure to hypoxia during gestation. The image was generated using optical projection tomography. / Credit: Company of Biologists
"We discovered that reduced oxygen triggered a stress response in the embryonic cells. The cells try to relieve the stress by stopping protein production. Suddenly those proteins aren't available to make the heart at a critical time and the heart couldn't develop properly," explained Dunwoodie.

Intriguingly, this cellular stress is not only caused by an oxygen deficiency. Multiple environmental factors and conditions, such as viral infections, increased temperature, high blood glucose, poor nutrition, or pollution, can initiate the stress.

"This cellular stress response could be the key to a variety of birth defects, not just heart defects. Now, we strongly suspect it's an underlying mechanism for many different types of birth defects, including those of the vertebrae, kidney and others."

"Surprisingly this cellular stress response has been used for hundreds of millions of years and it is only now that we have discovered that it can cause organs, such as the heart, not to form properly" concluded Professor Dunwoodie.

Sources: AAAS/Eurekalert! via Development
About the Author
  • Experienced research scientist and technical expert with authorships on 28 peer-reviewed publications, traveler to over 60 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
AUG 19, 2018
AUG 19, 2018
CRISPR Technology Seeks To Eliminate Genetic Diseases
Researchers at the University of Illinois have adapted to new CRISPR gene-editing technology that causes the cell's internal machinery to skip over a s...
AUG 24, 2018
Health & Medicine
AUG 24, 2018
Finding Ways to Treat 'Diabesity'
Being overweight can lead to a host of other conditions such as hypertension and heart disease. Obesity that leads to diabetes is now so prevalent that a n...
AUG 25, 2018
Cell & Molecular Biology
AUG 25, 2018
Reversing Type 1 Diabetes in Humans and Pets
Researchers may have found a surprising new way to improve symptoms of diabetes....
SEP 03, 2018
Genetics & Genomics
SEP 03, 2018
Two Genes Found to be Essential to REM Sleep
In mice lacking genes important to acetylcholine signaling, REM sleep was nearly lost....
SEP 27, 2018
SEP 27, 2018
Finding Beauty in Parasitic Replication
The toxoplasma parasite uses mammalian cells to replicate, as seen in this incredible image....
OCT 16, 2018
Genetics & Genomics
OCT 16, 2018
Lab-grown Neurons Help Uncover the Genetic Changes Underlying Mental Illness
Developing therapeutics that will effectively relieve mental illness means understanding what is causing those disorders in the first place....
Loading Comments...