Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency.

Journal of Inherited Metabolic Disease
Deqiang LiR Rozen

Abstract

Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) results in homocystinuria, with a variety of neurological and vascular complications, and sometimes death in the first year of life. MTHFR (EC 1.5.1.20) catalyses the synthesis of 5-methyltetrahydrofolate (5-methylTHF) which is required for homocysteine remethylation to methionine. Mthfr (-/-) mice are a good animal model of severe MTHFR deficiency in humans. They have marked hyperhomocysteinaemia and a high rate of mortality in the neonatal period. We attempted to rescue Mthfr (-/-) mice from postnatal death by treating their Mthfr (+/-) mothers with mefolinate (a synthetic form of 5-methylTHF, dissolved in their drinking water) or with a folic acid-enriched diet throughout pregnancy and lactation. We monitored pups' vitality and body weights until 3 weeks of age. The majority of Mthfr (-/-) pups from the control groups died during the first week of life. Body weights of -/- pups from control groups were significantly less than those of their Mthfr (+/-) and Mthfr ( +/+ ) littermates. Mefolinate treatment significantly improved survival rates (64% survival) in the -/- pups and improved morphology of the cerebellum. Folic acid supplementation did not affect the su...Continue Reading

References

Aug 15, 1996·Clinica Chimica Acta; International Journal of Clinical Chemistry·P DurandD Blache
Oct 11, 2001·Clinical Chemistry and Laboratory Medicine : CCLM·W L Nelen
Jan 29, 2003·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Bernd C SchwahnRima Rozen
Jun 6, 2003·Best Practice & Research. Clinical Obstetrics & Gynaecology·William Martin Hague
Jun 26, 2004·The Biochemical Journal·Bernd C SchwahnRima Rozen
Nov 3, 2004·Akusherstvo i ginekologii︠a︡·V StoĭkovaA Tsoncheva

❮ Previous
Next ❯

Citations

May 22, 2010·Journal of Inherited Metabolic Disease·Manuel SchiffHélène Ogier de Baulny
Feb 14, 2009·Birth Defects Research. Part A, Clinical and Molecular Teratology·Laura PickellRima Rozen
Jan 22, 2011·Birth Defects Research. Part A, Clinical and Molecular Teratology·Laura PickellRima Rozen
Feb 6, 2014·Xenobiotica; the Fate of Foreign Compounds in Biological Systems·Francesco Scaglione, Giscardo Panzavolta
Feb 14, 2016·Human Mutation·D Sean FroeseMatthias R Baumgartner
Feb 9, 2021·Clinical Nutrition : Official Journal of the European Society of Parenteral and Enteral Nutrition·Mengyi LiuXianhui Qin

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.