Risk of Folate Deficiency Explained

Folate deficiency demystified, as the reason for a greater risk of disease in a certain group of people is explained.

Folate deficiency demystified, as the reason for a greater risk of disease in a certain group of people is explained as per a study at the University of Toronto, published in the American Journal of Human Genetics.

One of the key factors in preventing a developmental disorder – neural tube defects in the baby during pregnancy is folate supplementation. However, individuals carrying genetic variants of folate deficiency can have a life-long struggle to the risk of serious neurological and heart problems and even death.

Link Between Adequate Folate Levels and Heart Disease Mortality Risk Discovered
Reduced folate levels in the bloodstream have been associated with an increased risk of cardiovascular mortality in patients with rheumatoid arthritis, shedding light on why those patients are more susceptible to heart and vascular disease.

‘Folate deficiency demystified, as the reason for a greater risk of disease in a certain group of people is explained by the defects in an enzyme called MTHFR, or 5,10-methylenetetrahydrofolate reductase. Identifying these genetic variant combinations might help in predicting the disease severity.’

Hence recognizing these individuals at an early stage, may help reduce the severity of the consequences. Defects in an enzyme called MTHFR, or 5,10-methylenetetrahydrofolate reductase may alter the function of folate, or vitamin B9, and lead to its deficiency.

"The benefit of recognizing MTHFR deficiency early is that you can start preventative therapy, including a high folate diet, very early in life and prevent or reduce the most severe effects," says Fritz Roth, a professor of molecular genetics in the Donnelly Centre for Cellular and Biomolecular Research at the Temerty Faculty of Medicine and senior author on a new study into the genetic causes of the disorder.

Genetic Variant of Folate deficiency

Low Folate Levels May Mean Malnutrition in Hospital Patients
About 10% of patients who come to complex care hospitals may have low levels of folate and other indicators of malnutrition, investigators say.

The study team thereby set to explore all the possible MTHFR variants to identify the ones that don't function properly and therefore could impact health. It was found that as many as half of humans carry at least one copy of an MTHFR variant known as A222V (amino-acid alanine changed into valine at position 222), which significantly raises the disease risk. The variant can even impact the effect of other variants.

Having a folate-rich diet may be sufficient to stave off the risk of birth defects among 10% of women with this mutation. Thus identifying the interactions for variant combination before exhibited in patients, might help predict disease severity.

Damages of Folate Deficiency are Irreversible
Folate deficiency causes problems in DNA replication and cell division and the damages caused by it are irreversible.

"Clinical geneticists will usually be right in saying that this common variant is not a big deal, and that you can overcome its effects by getting more dietary folate, but a major point of our paper is that A222V also changes the impact of other variants. MTHFR is just the beginning. Having an atlas of maps for other disease-related genes could help us better interpret individual genomes and allow earlier diagnosis and prevention when we see a concerning variants," says Roth.

Source-Medindia

BioIVT Study Investigates Link Between HIV Drugs & Neural Tube Defects
BioIVT announced that researchers in its Transporter Sciences Group have co-authored the study which is published in the journal Drug Metabolism and Disposition.