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:2/21/2017)... Der weltweite Biobanking-Sektor wird bis zum Jahr 2018 ... mehr als 50 Vertretern aus verschiedenen Branchen wurde aber klar, ... Prognose zu realisieren. ... Zu den Schwierigkeiten für Biobanking-Profis ... die Biobank, die Implementierung Zeit sparender Technologien, ein besseres ...
(Date:2/13/2017)... FRANCISCO , Feb. 13, 2017  RSA ... centralized platform that is designed to enhance fraud ... latest release in the RSA Fraud & Risk ... enable organizations to leverage additional insights from internal ... tools to better protect their customers from targeted ...
(Date:2/9/2017)... 2017 The biomass boiler market report by ... boiler market globally in terms of revenue (US$ Mn) ... market for biomass boilers has been segmented on the ... country/region. The market based on feedstock type, has been ... & energy crops, urban residues, and others. On the ...
Breaking Biology News(10 mins):
(Date:2/22/2017)... ... ... Park Systems , a leader in Atomic Force Microscopy (AFM) since ... attendees and Park customers on Feb. 27, 2017 from 12-2pm at Morton’s The Steakhouse ... The luncheon will feature a talk on Automated AFM for Small-Scale and Large-Scale Surface ...
(Date:2/22/2017)... CINCINNATI , Feb. 22, 2017 Scientists ... drives inflammation and organ damage in Gaucher and maybe ... fewer risks and lower costs than current therapies. ... Children,s Hospital Medical Center , which also included investigators ... , report their data Feb. 22. The study ...
(Date:2/22/2017)... ... February 22, 2017 , ... ... of precision treatments for neurodegenerative diseases, today announced it has issued a scientific ... This is one of a series of commentaries from ProMIS’s scientific team offering ...
(Date:2/22/2017)... ... , ... LabRoots , the leading provider of educational and interactive virtual ... announce the launch of a new scholarship for young scientists seeking a degree in ... is open to all high school seniors, 17 years or older; as well as ...
Breaking Biology Technology: