MAY 13, 2017 4:04 PM PDT

Linking Folic Acid, Primary Cilia & Neural Tube Defects

WRITTEN BY: Carmen Leitch

It has been known for some time that folic acid is vital to a healthy pregnancy, although researchers have been unsure exactly what the underlying physiological mechanisms of this requirement are. New work published in The FASEB Journal has shed light on this relationship, which has also highlighted the importance of a chemical modification to proteins called methylation. Scientists report that when a protein called Septin2 is not properly methylated, there is an increase in the risk of a disorder called neural tube defects or NTDs.

The Septin2 protein, encoded by the Septin2 gene, helps to regulate the structure of primary cilia. These types of cilia, which are different from motile cilia, act as a sort of antenna for the cell. They have been the focus of increasing research interest as scientists are finding cilia to have roles in a variety of signaling pathways in a huge variety of human cells; it seems most human cell types have a primary cilium and many important molecules can be found there at various times. 

"Despite their impressive name, primary cilia are sometimes not accorded the high stature they should have in both embryonic development and in adult organs," explained Thoru Pederson, Ph.D., the Editor-in-Chief of The FASEB Journal. "The same might be said of the field of protein methylation. This work brings the two together in a most interesting case."

Related: Unveiling the Internal Structure of Cilia 

After genes that encode for proteins are translated, they are often subjected to chemical modifications. One such modification is methylation, in which methyl groups are added to the protein. That alteration can have a powerful impact on the protein’s function. 

For this work, Richard H. Finnell, Ph.D., DABMGG, a researcher at the Department of Pediatrics, Dell Medical School, University of Texas at Austin and colleagues utilized mice that had been genetically engineered to inactivate a gene called slc19a1 under certain conditions. Slc19a1 is known to play a role in the transport of folic acid. The investigators were able to determine that when embryos don’t carry a functional slc19a1 gene, neural tubes defects occur. Further analysis revealed that there were concurrent problems with the methylation of the Septin2 protein.

Very early on in human development, the neural tube is supposed to close. A lack of folic acid can cause that to fail, resulting in serious and often untreatable birth defects. This happens so early in pregnancy, in the first month when many women may not even know they are pregnant, that food has been routinely supplemented with folic acid in an effort to prevent NTDs from happening. However, they remain one of the most common birth defects, with up to one in a thousand live births in the United States affected.

"NTDs are devastating birth defects that compromise multiple aspects of a child's development," commented Finnell. "Preventative methods, while remarkably effective, are not perfect. Efforts must be taken to understand leading developmental pathways that are amenable to modifications that offer hope for correcting the deficits secondary to failure of the neural tube to close properly during early embryogenesis,” Finnell concluded.

 

 

You can learn more about the association between neural tube defects and folic acid from the video above, by the Centers for Disease Control.

 

Sources: Science Daily via Federation of American Societies for Experimental Biology, The FASEB Journal

About the Author
  • Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
DEC 20, 2020
Cell & Molecular Biology
Chromatin Doesn't Behave Like a Liquid or Solid - It's a Gel
DEC 20, 2020
Chromatin Doesn't Behave Like a Liquid or Solid - It's a Gel
A cell's nucleus has to hold the entire genome. To do that, the DNA has to be carefully arranged and compacted by protei ...
JAN 12, 2021
Cardiology
SGLT2 Inhibitors Can Reduce the Cardiovascular Risk for Diabetics Being Treated with Insulin
JAN 12, 2021
SGLT2 Inhibitors Can Reduce the Cardiovascular Risk for Diabetics Being Treated with Insulin
One of the biggest problems that come alongside diabetes is the increased risk of cardiovascular disease. Treatment of d ...
JAN 15, 2021
Microbiology
Enterovirus Images May Pave the Way to Edible Vaccines
JAN 15, 2021
Enterovirus Images May Pave the Way to Edible Vaccines
Most adenoviruses infect the respiratory system. But there are variants of these viruses that infect the gastrointestina ...
JAN 24, 2021
Microbiology
Cholesterol Enables SARS-CoV-2 to Invade & Create 'Mega-Cells'
JAN 24, 2021
Cholesterol Enables SARS-CoV-2 to Invade & Create 'Mega-Cells'
To cause the COVID-19 illness, the SARS-CoV-2 virus first has to get into cells. To do so, it uses something called a sp ...
FEB 04, 2021
Microbiology
Using Synthetic Biology to Reimagine Development
FEB 04, 2021
Using Synthetic Biology to Reimagine Development
Scientists have been able to grow Escherichia coli bacteria colonies in complex shapes that E. coli doesn't typically fo ...
FEB 18, 2021
Cell & Molecular Biology
Inhibition of a Specific Enzyme Could be a Way to Treat Glioblastoma
FEB 18, 2021
Inhibition of a Specific Enzyme Could be a Way to Treat Glioblastoma
Researchers may have identified a new treatment target for a deadly form of brain cancer. Inhibiting an enzyme called PR ...
Loading Comments...