Navigation Links
Lack of key enzyme in the metabolism of folic acid leads to birth defects
Date:1/17/2013

AUSTIN, Texas Researchers at The University of Texas at Austin have discovered that the lack of a critical enzyme in the folic acid metabolic pathway leads to neural tube birth defects in developing embryos.

It has been known for several decades that folic acid supplementation dramatically reduces the incidence of neural tube defects, such as spina bifida and anencephaly, which are among the most common birth defects. In some populations, folic acid supplementation has decreased neural tube defects by as much as 70 percent.

However, scientists still do not fully understand how folic acid decreases neural tube defects, or why folic acid supplementation does not eliminate birth defects in all pregnancies.

"Now, we've found that mutation of a key folic acid enzyme causes neural tube defects in mice," said Dean Appling, professor of biochemistry in the College of Natural Sciences. "This is the clearest mechanistic link yet between folic acid and birth defects."

Appling and his colleagues published their research in the Jan. 8 issue of Proceedings of the National Academy of Sciences (PNAS).

The scientists made the discovery using mice that lack a gene for a folic acid enzyme called Mthfd1l, which is required for cells to produce a metabolite called formate. Embryos need formate to develop normally.

"This work reveals that one of the ways that folic acid prevents birth defects is by ensuring the production of formate in the developing embryo," said Appling, "and it may explain those 30 percent of neural tube defects that cannot be prevented by folic acid supplementation."

Appling said that the mice provide researchers with a strong model system that they can use to further understand folic acid and its role in birth defects in humans. In fact, humans share the same gene for the folic acid enzyme with the mouse and all other mammals. Indeed, it has recently been discovered that point mutations in that human gene increase the risk of birth defects.

Appling said that he and his colleagues would like to use the mouse system to begin looking for nutrients that could be delivered to pregnant mothers to prevent those neural tube defects that cannot be prevented by folic acid.

Ultimately, women could someday be screened for the gene that produces the enzyme. If they are deficient, steps could be taken to improve their chances for developing embryos free of neural tube defects through further nutrient supplementation.

Folic acid was discovered at The University of Texas at Austin in the 1940s by biochemists Esmond Snell and Herschel Mitchell. The U.S. has fortified all enriched cereal grain products with folic acid since 1996 to ensure that women of childbearing age receive adequate quantities of the vitamin.


'/>"/>
Contact: Dean Appling, professor
dappling@austin.utexas.edu
512-471-4796
University of Texas at Austin
Source:Eurekalert

Related biology news :

1. RUB researchers find over active enzyme in failing hearts
2. Powerful enzymes create ethanol from agricultural harvest waste
3. Nutrient-sensing enzymes key to starvation response and survival in newborn mammals
4. Can compressed fluids increase enzyme activity in industrial bioprocesses?
5. Inhibition of enzyme NOX4 prevents liver fibrosis
6. Researchers use blood testing to predict level of enzymes that facilitate disease progression
7. New inhibitors of elusive enzymes promise to be valuable scientific tools
8. Remarkable enzyme points the way to reducing nitric acid use in industry
9. Ancient enzymes function like nanopistons to unwind RNA
10. Brain enzyme is double whammy for Alzheimers disease
11. Is it a rock, or is it Jell-O? Defining the architecture of rhomboid enzymes
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/4/2016)... LONDON , Feb. 4, 2016 ... is apparently one of the most popular hubs ... Project, MetaHIT and other huge studies of human ... that past few years, the microbiome space has ... applied biomedical research. This report focuses on ...
(Date:2/3/2016)... Vigilant Solutions announces today that the ... Missouri solved two recent hit-and-run cases with ... Vigilant Solutions. Brian Wenberg explains, "I ... was walking out of a convenience store and witnessed an elderly male back ... striking his vehicle and leaving the scene.  In his ...
(Date:2/2/2016)... 2016 This BCC Research report provides ... reviewing the recent advances in high throughput ‘omic ... field forward. Includes forecast through 2019. ... and opportunities that exist in the bioinformatic market. ... as well as IT and bioinformatics service providers. ...
Breaking Biology News(10 mins):
(Date:2/10/2016)... 2016  Allergan plc (NYSE: AGN ) a ... Saunders , Allergan,s CEO and President, will be featured ... at the RBC Capital Markets Healthcare Conference on Tuesday, ... New York Palace Hotel in New York, ... and can be accessed on Allergan,s Investor Relations web ...
(Date:2/10/2016)... MO (PRWEB) , ... February 10, 2016 , ... ... will attend the International Society of Pharmaceutical Engineering (ISPE) Rocky Mountain Chapter 21st ... ISPE is expecting to fill more than 100 tables for its annual event, ...
(Date:2/10/2016)... Mateo, CA (PRWEB) , ... February 10, 2016 ... ... of Multiplex Testing (PROMPT), a research registry built on the secure online PatientCrossroads ... September 2014. More than 1,600 participants have joined the PROMPT study, which seeks ...
(Date:2/10/2016)... La Jolla CA (PRWEB) , ... February 10, 2016 , ... ... of new agents for the treatment of Alzheimer’s disease, announced today it has been ... to February 18th at the Breakers in Palm Beach, Florida. The purpose of ...
Breaking Biology Technology: