A single missing gene leads to miscarriage

October 19, 2018, Ruhr-Universitaet-Bochum
Marion Böing, Beate Brand-Saberi und Markus Napirei (from the left) are hoping to gain new insights into the role a single gene plays in recurrent miscarriage in humans. RUB, Kramer. This image may only be used for reporting about the content of the press release "A single missing gene leads to miscarriage" by Ruhr-Universitaet Bochum, published in October 2018.

A single gene from the mother plays such a crucial role in the development of the placenta that its dysfunction leads to miscarriages. Researchers from the Medical Faculty of Ruhr-Universität Bochum (RUB) have observed this in so-called knockout mice that were specifically modified for this purpose. These mice lack the gene for the transcription factor Math6. By conducting further analyses, the research team is now hoping to gain new insights into the role the gene plays in recurrent miscarriage in humans. The researchers headed by Professor Beate Brand-Saberi published their results in the journal Scientific Reports on 9 October 2018.

Embryos die due to placenta problems

Transcription factors regulate the expression of downstream . Math6 plays a significant role in a number of organs during prenatal development as well as in the adult organism. The knockout mice generated at RUB lack the gene for the transcription factor Math6. "Considering the consequences caused by the lacking gene, conclusions can be drawn regarding its function," explains Beate Brand-Saberi, Head of the Department of Anatomy and Embryology.

She and her team successfully demonstrated that – contrary to previous assumptions – embryonic development is not disrupted when Math6 is switched off. "However, and foetuses die due to problems," says the researcher. The development of the placenta, which is made up from maternal and foetal tissue, is vital for supplying the embryos resp. foetuses with nutrients during pregnancy.

Fewer blood vessels in material portion of the placenta

In a first step, the research team successfully localised the expression of Math6 in the placenta of mice during different stages of gestation and measured its volumes. In the process, it emerged that the gene activity spikes at the beginning of pregnancy.

In the Math6 knockout mouse, it is in particular the maternal portion of the placenta that presents deficiencies. "Its shape is altered and fewer blood vessels are formed," describes first-time author Marion Böing, whose dissertation constitutes the basis of the research project. As a result, haemorrhaging occurs during pregnancy, resulting in foetal death.

Genetic makeup of the mother is decisive

By cross-mating mice, researchers noticed that this disorder occurs only if the pregnant female lacks both parental copies of the Math6 gene. When the researchers mated females lacking only one copy of the gene with males lacking both copies, the placenta formed in the normal way.

"Consequently, the disorder depends on the of the mother, not on that of the embryos," concludes Beate Brand-Saberi. "Math6 expression in the female appears to be essential to sustain pregnancy and supply the foetuses with nutrients. The fact that one single gene of the mother plays such a crucial role for placental development is a very rare, but very important observation," continues the researcher.

Better understanding of miscarriages in humans

The project has laid the foundation for further studies of the placenta. In the future, the researchers intend to analyse the underlying mechanism in-depth, in order to gain a better understanding of complications and of in humans.

Explore further: Making mice a tiny bit more human to study preterm birth

More information: Marion Böing et al. Murine transcription factor Math6 is a regulator of placenta development, Scientific Reports (2018). DOI: 10.1038/s41598-018-33387-x

Related Stories

Making mice a tiny bit more human to study preterm birth

October 2, 2018
Preterm birth remains a global epidemic linked to a lifetime of potential health complications. It also is difficult to study in living creatures—especially the uniquely precise biology of preterm birth in humans.

Scientists identify mechanism that may explain why males are more at risk than females for neurodevelopmental disorders

July 3, 2018
Researchers have recently begun to realize that biological sex plays a key role in disease risk. Sex plays a role in hypertension, diabetes, arthritis—and in many neurological and psychiatric disorders. Depression and anxiety ...

Alomst 70 percent of 103 genes linked to prenatal death affect the placenta

March 14, 2018
The role of the placenta in healthy fetal development is being seriously under-appreciated according to a new paper published today (14th March). The study was part of the Wellcome Trust-funded "Deciphering the Mechanisms ...

Researchers discover new signaling pathway in embryonic development

March 11, 2015
During pregnancy, the mother supplies the fetus with nutrients and oxygen via the placenta. If placental development is impaired, this may lead to growth disorders of the embryo or to life-threatening diseases of the mother ...

Stress during pregnancy can affect fetal development

January 25, 2015
Stress hormones in the mother can affect foetal development, according to a study published today in The Journal of Physiology.

Father's genes can impact motherly love

July 31, 2018
A father's genes are no longer thought to just provide a blueprint for the growth and development of their offspring. Research publishing 31 July in the open access journal PLOS Biology by scientists led by Professors Rosalind ...

Recommended for you

Progress in genetic testing of embryos stokes fears of designer babies

November 16, 2018
Recent announcements by two biotechnology companies have stoked fears that designer babies could soon be an option for those who can afford to pick and choose which features they want for their offspring. The companies, MyOme ...

Gene editing possible for kidney disease

November 16, 2018
For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.

DICE: Immune cell atlas goes live

November 15, 2018
Compare any two people's DNA and you will find millions of points where their genetic codes differ. Now, scientists at La Jolla Institute for Immunology (LJI) are sharing a trove of data that will be critical for deciphering ...

Ashkenazi Jewish founder mutation identified for Leigh Syndrome

November 15, 2018
Over 30 years ago, Marsha and Allen Barnett lost their sons to a puzzling childhood disease that relentlessly attacked their nervous systems and sapped their energy. After five-year-old Chuckie died suddenly in 1981, doctors ...

Drug candidate may recover vocal abilities lost to ADNP syndrome

November 15, 2018
Activity-dependent neuroprotective protein syndrome (ADNP syndrome) is a rare genetic condition that causes developmental delays, intellectual disability and autism spectrum disorder symptoms in thousands of children worldwide. ...

The puzzle of a mutated gene lurking behind many Parkinson's cases

November 15, 2018
Genetic mutations affecting a single gene play an outsized role in Parkinson's disease. The mutations are generally responsible for the mass die-off of a set of dopamine-secreting, or dopaminergic, nerve cells in the brain ...

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.