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 mut
'/>"/>

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

Page: 1 2

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:4/10/2015)... Research and Markets ( http://www.researchandmarkets.com/research/cjk4gb/security ) has ... - NEC" report to their offering. ... to supply a range of IT security management and ... on the development of a Big Data and cloud ... Asia-Pacific region is a core ...
(Date:4/6/2015)... NXT-ID, Inc. (NASDAQ: NXTD ) ("NXT-ID" ... on the growing mobile commerce market, announced today ... MINIATURE, MULTI-PURPOSE ANTENNA METHOD AND SYSTEM FOR ... introduces a new revolutionary method and system to ... of miniature antenna modules for multiple purposes including ...
(Date:4/2/2015)... GOTHENBURG, Sweden , April 2, 2015 ... revenues for Q1 2015 attributed to somewhat higher than ... company in the year-end report 2014 that revenues for ... MSEK that the company reported for Q4 2014. The ... continue to be negative. The complete interim report will ...
Breaking Biology News(10 mins):NEC Security Competitive Profile 2015 2NXT-ID Patents Miniature, Low Power Wireless Magnetic Stripe 2NXT-ID Patents Miniature, Low Power Wireless Magnetic Stripe 3NXT-ID Patents Miniature, Low Power Wireless Magnetic Stripe 4Fingerprint Cards Revises Revenues for Q1 2015 2
... (NorthShore) and Northwestern University have discovered that fiber optic ... blood levels in the colonic lining (mucosa) in humans, ... cancer. The study appears in the October ... of the American Gastroenterological Association (AGA) Institute. ...
... 1, 2008 The last decade has seen a ... a mounting public health crisis across the world. ... physicians and patients a potential new approach toward the ... "As bacteria become more resistant to our current classes ...
... rivers comes from erosion of the landscape as well as ... much each source contributes to a river and how ... is the subject of research by Peter Whiting, professor of ... of certain radionuclides found in the soil, including beryllium and ...
Cached Biology News:Breakthrough optical technology to assess colon cancer risk, accuracy 2Breakthrough optical technology to assess colon cancer risk, accuracy 3Groundbreaking discovery may lead to stronger antibiotics 2Case Western Reserve University project ties soil conservation and river management together 2
(Date:5/5/2015)... Calif. , May 5, 2015  23andMe, Inc., ... of the Lupus Research Study in collaboration ... individuals with systemic lupus erythematosus, more commonly known as ... genetics of lupus. The effort is also in collaboration ... Lupus Awareness Month in May. Approximately 1.5 ...
(Date:5/5/2015)... Israel , May 5, 2015  Tikcro ... Company was approved to continue trading on OTCQB  ... OTCQB Marketplace allows for a continuous ... broker-dealers. Investors can have real-time quotes and market ... The OTCQB Marketplace includes U.S. and ...
(Date:5/5/2015)... 5, 2015  A group of biotechnology executives and ... Research Institute, a non-profit organization dedicated to providing education, ... from disorders of consciousness.  ... ... which no voluntary actions can be initiated by the ...
(Date:5/5/2015)... 2015 CytomX, a biotechnology company developing Probody™ ... Sean McCarthy , D. Phil., chief executive officer, ... New York at 1:15 p.m. ... an overview of CytomX,s Probody pipeline, including the company,s ... About CytomX Therapeutics CytomX Therapeutics develops Probody™ ...
Breaking Biology Technology:23andMe Launches the Lupus Research Study in Collaboration with Pfizer Inc. 223andMe Launches the Lupus Research Study in Collaboration with Pfizer Inc. 3Tikcro Technologies Announces Approval to Continue Trading on OTCQB 2Biotechnology Executives and Medical Doctors Team Up to Tackle Coma and Disorders of Consciousness 2Biotechnology Executives and Medical Doctors Team Up to Tackle Coma and Disorders of Consciousness 3Biotechnology Executives and Medical Doctors Team Up to Tackle Coma and Disorders of Consciousness 4Biotechnology Executives and Medical Doctors Team Up to Tackle Coma and Disorders of Consciousness 5
... attempt to measurably increase the amount of capital available ... Institutions and the Department of Commerce , ... , ,Lorrie Keating Heinemann, secretary of DPI, said the ... percentage of their funds and perhaps become limited partners ...
... - Mirus Bio Corp. , a Madison-based company engaged ... granted a United States patent on a new injection delivery method. ... an effective method to deliver nucleic acids such as RNA for ... University of Wisconsin-Madison , it has developed a more rapid ...
... - In an effort to spur entrepreneurship in a ... Foundation has named the University of Wisconsin-Madison ... the university has received $5 million to help train ... campus initiative in 2004 to bring entrepreneurship education to ...
Cached Biology Technology:State agencies propose venture capital center 2Mirus Bio awarded patent on RNA delivery 2Mirus Bio awarded patent on RNA delivery 3UW gets $5M to extend entrepreneurship 2
Mouse monoclonal antibody raised against a partial recombinant DHX8. NCBI Entrez Gene ID = DHX8...
... of the members of the GPCR family ... splicing--which has important implications for drug research. ... classical expression profiling and at the same ... of the gene that are expressed in ...
... 5.6" TFT color screen, without Camera ... camera with 8.0 mega pixel resolution. It is ... budget. View image from large 5.6" TFT color ... is suitable to capture image for fluorescent gels, ...
... The binding specificity and signaling of ... known to be modified by alternative splicing--which ... GPCR SpliceArrays you can perform a classical ... detect the different alternatively spliced forms of ...
Biology Products: