PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Lack of key enzyme in the metabolism of folic acid leads to birth defects

2013-01-17
(Press-News.org) 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.

###Postdoctoral researcher Jessica Momb and graduate student Jordan Lewandowski were largely responsible for this research. Co-authors include graduate student Joshua Bryant, researcher Rebecca Fitch, researcher Deborah Surman, and Steven Vokes, assistant professor of biology.

Additional contact: Lee Clippard, media relations
512-232-0675
clippard@austin.utexas.edu


ELSE PRESS RELEASES FROM THIS DATE:

New UAlberta research shows commonly prescribed medications could have adverse effects

2013-01-17
A research team with the Faculty of Medicine & Dentistry at the University of Alberta reported findings that significantly improve understanding of how widely used drugs in Pulmonary Arterial Hypertension (PAH) affect the heart health of treated patients. The research shows that medications often prescribed for PAH could block the function of an important hormone in the heart, decreasing the strength of contraction of the right heart chambers, a potentially important and yet unrecognized adverse effect. PAH is a disease that affects the blood vessels of the lungs, causing ...

Novel technique reveals dynamics of telomere DNA structure

2013-01-17
Biomedical researchers studying aging and cancer are intensely interested in telomeres, the protective caps on the ends of chromosomes. In a new study, scientists at UC Santa Cruz used a novel technique to reveal structural and mechanical properties of telomeres that could help guide the development of new anti-cancer drugs. Telomeres are long, repetitive DNA sequences at the ends of chromosomes that serve a protective function analogous to that of the plastic tips on shoelaces. As cells divide, their telomeres get progressively shorter, until eventually the cells stop ...

Diabetic fruit flies support buzz about dietary sugar dangers

Diabetic fruit flies support buzz about dietary sugar dangers
2013-01-17
LA JOLLA, Calif., January 15, 2013 – Regularly consuming sucrose—the type of sugar found in many sweetened beverages—increases a person's risk of heart disease. In a study published January 10 in the journal PLOS Genetics, researchers at Sanford-Burnham Medical Research Institute and Mount Sinai School of Medicine used fruit flies, a well-established model for human health and disease, to determine exactly how sucrose affects heart function. In addition, the researchers discovered that blocking this cellular mechanism prevents sucrose-related heart problems. "Our study ...

NFL players may be at higher risk for depression as they age

2013-01-17
SAN DIEGO – National Football League (NFL) players may be at increased risk of depression as they age due to brain damage resulting from concussions, according to two studies released today that will be presented at the American Academy of Neurology's 65th Annual Meeting in San Diego, March 16 to 23, 2013. "The Centers for Disease Control and Prevention estimates that about 1.6 to 3.8 million sports concussions occur each year. While it is known that sports concussions can cause immediate disturbances in mood and thinking, few studies have investigated the long-term ...

Shorter woman, taller man: Preferences for partner height translate into actual partner choices

2013-01-17
Finding Mr. or Ms. Right is a complicated process, and choosing a mate may involve compromising on less important factors like their height. However, research published January 16 in the open access journal PLOS ONE by Gert Stulp and colleagues from the University of Groningen, Netherlands suggests that despite the many other factors involved, people's preferences for a partner's height are reflected in real couples in the UK. Given the average heights of men and women in typical Western populations, two out of every hundred couples should comprise a woman who is taller ...

Warmest spring on record causes earliest flowering ever observed in eastern U.S.

2013-01-17
Exceptionally warm spring weather in 2010 and 2012 resulted in the earliest flowering times known in 161 years of recorded history at two sites in the eastern US, according to research published January 16 in the open access journal PLOS ONE by Elizabeth Ellwood of Boston University and colleagues. Many plants need a long winter break to undergo physiological changes that make them bloom in the spring. According to several previous studies, this blooming is occurring earlier than before due to warmer springs caused by climate change. The consequences of such early flowering ...

Earliest sea cow ancestors originated in Africa, lived in fresh water

2013-01-17
A new fossil discovered in Tunisia represents the oldest known ancestor of modern-day sea cows, supporting the African origins of these marine mammals. The find is described in research published January 16 in the open access journal PLOS ONE by Julien Benoit and colleagues from the University of Science and Technology in Montpellier, France. Some fossils of sea cow ancestors have been found in Jamaica, but the Tunisian fossil is more primitive and pre-dates these, revealing an older ancestor for sea cows that emerged at the same time as other modern mammals. Unlike ...

'Shell-shocked' crabs can feel pain

Shell-shocked crabs can feel pain
2013-01-17
The latest study by Professor Bob Elwood and Barry Magee from Queen's School of Biological Sciences looked at the reactions of common shore crabs to small electrical shocks, and their behaviour after experiencing those shocks. The research has been published in the Journal of Experimental Biology. Professor Elwood's previous research showed that prawns and hermit crabs respond in a way consistent with pain. This latest study provides further evidence of this. Professor Elwood said: "The experiment was carefully designed to distinguish between pain and a reflex phenomenon ...

New study sheds light on the origin of the European Jewish population

2013-01-17
Despite being one of the most genetically analysed groups, the origin of European Jews has remained obscure. However, a new study published online today (Thursday) in the journal Genome Biology and Evolution by Dr Eran Elhaik, a geneticist at the Johns Hopkins School of Public Health, argues that the European Jewish genome is a mosaic of Caucasus, European, and Semitic ancestries, setting to rest previous contradictory reports of Jewish ancestry. Elhaik's findings strongly support the Khazarian Hypothesis, as opposed to the Rhineland Hypothesis, of European Jewish origins. ...

Seeing beyond cameras: Predicting where people move in CCTV blind spots

2013-01-17
A new model from Queen Mary, University of London could be a useful security tool in tracking people in large, busy venues such as airport terminals and shopping centres. The research fuses information gathered from multiple Close-Circuit Television (CCTV) network cameras and geographical maps for the first time, and could be useful in locating people in blind-spots where the CCTV cannot see, known as invisible areas. Co-author Professor Andrea Cavallaro and director of Queen Mary's Centre for Intelligent Sensing, based in the School of Electronic Engineering and ...

LAST 30 PRESS RELEASES:

Corpse flowers are threatened by spotty recordkeeping

Riding the AI wave toward rapid, precise ocean simulations

Are lifetimes of big appliances really shrinking?

Pink skies

Monkeys are world’s best yodellers - new research

Key differences between visual- and memory-led Alzheimer’s discovered

% weight loss targets in obesity management – is this the wrong objective?

An app can change how you see yourself at work

NYC speed cameras take six months to change driver behavior, effects vary by neighborhood, new study reveals

New research shows that propaganda is on the rise in China

Even the richest Americans face shorter lifespans than their European counterparts, study finds

Novel genes linked to rare childhood diarrhea

New computer model reveals how Bronze Age Scandinavians could have crossed the sea

Novel point-of-care technology delivers accurate HIV results in minutes

Researchers reveal key brain differences to explain why Ritalin helps improve focus in some more than others

Study finds nearly five-fold increase in hospitalizations for common cause of stroke

Study reveals how alcohol abuse damages cognition

Medicinal cannabis is linked to long-term benefits in health-related quality of life

Microplastics detected in cat placentas and fetuses during early pregnancy

Ancient amphibians as big as alligators died in mass mortality event in Triassic Wyoming

Scientists uncover the first clear evidence of air sacs in the fossilized bones of alvarezsaurian dinosaurs: the "hollow bones" which help modern day birds to fly

Alcohol makes male flies sexy

TB patients globally often incur "catastrophic costs" of up to $11,329 USD, despite many countries offering free treatment, with predominant drivers of cost being hospitalization and loss of income

Study links teen girls’ screen time to sleep disruptions and depression

Scientists unveil starfish-inspired wearable tech for heart monitoring

Footprints reveal prehistoric Scottish lagoons were stomping grounds for giant Jurassic dinosaurs

AI effectively predicts dementia risk in American Indian/Alaska Native elders

First guideline on newborn screening for cystic fibrosis calls for changes in practice to improve outcomes

Existing international law can help secure peace and security in outer space, study shows

Pinning down the process of West Nile virus transmission

[Press-News.org] Lack of key enzyme in the metabolism of folic acid leads to birth defects