The Implications of One Carbon and Homocysteine Metabolism in Nutrition and Health

Dear Colleagues,

It is now 90 years since homocysteine was first identified as a biologically important amino acid linking methionine and sulfur metabolism.  Since then, over 26,000 research papers have described its relevance to several inborn errors of metabolism, folate, vitamin B12, vitamin B6, and riboflavin status, as well as to diseases as diverse as cardio- and cerebrovascular disease, dementia, renal disease, thyroid disease, and pregnancy complications to name but a few.

Important developments in the field over this time include the first clinical descriptions of homocystinuria and the subsequent discovery of impaired cystathionine β-synthase activity as a causative factor. As the metabolic pathways related to homocysteine became delineated, other important and more common enzymatic defects were described, such as the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR).

The advent of convenient laboratory assays revealed mild-moderate elevation of blood homocysteine concentration in association with several diseases, drugs, disorders and lifestyle factors.  However, in each case, considerable debate still exists concerning its exact contribution to disease pathogenesis.

There have also been important recent developments in the closely related metabolic cycles involving folate, vitamin B12, and B6.  For example, the delineation of sub-cellular one-carbon metabolism in mitochondria and the nucleus, the importance of formate in said metabolism, identification of the transcobalamin receptor and delineation of the sequence of events in intracellular vitamin B12 processing.

This Special Issue welcomes any original research and literature reviews concerning homocysteine in relation to health and disease under the following topics: historical perspectives, homocysteine and related metabolites in cardiovascular and cerebrovascular disease, genetic determinants of hyperhomocysteinaemia, its role in pregnancy complications, cognitive deficits, including dementia and issues and debates concerning its practical assay and relevance in modern routine clinical practice.

In short, this Special Issue will provide both a retrospective and “state of the art” view of homocysteine metabolism and its significance in nutrition and health.

Dr. Andrew McCaddon
Prof. Dr. Joshua W. Miller
Guest Editors

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