Homocysteine: Biosynthesis and Health Implications

Kilmer S. McCully, MD (Editor)
Harvard Medical School, Boston, Massachusetts, USA

Series: New Developments in Medical Research
BISAC: MED106000



Volume 10

Issue 1

Volume 2

Volume 3

Special issue: Resilience in breaking the cycle of children’s environmental health disparities
Edited by I Leslie Rubin, Robert J Geller, Abby Mutic, Benjamin A Gitterman, Nathan Mutic, Wayne Garfinkel, Claire D Coles, Kurt Martinuzzi, and Joav Merrick


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In the aftermath of the discovery of the essential amino acid methionine in 1922, a new sulfur amino acid was discovered a decade later by Vincent DuVigneaud as a product of the degradation of methionine. This new amino acid, homocysteine, was found to be an important intermediate compound in the metabolism of methionine, cysteine and other sulfur amino acids through studies in animals. Although methylation reactions and one carbon metabolism were found to be related to the metabolism of homocysteine, little was known of the biomedical significance of this obscure sulfur amino acid in the 1950s.

The studies of children with mental retardation, dislocated optic lenses, osteoporosis and other skeletal abnormalities, and a propensity for arterial and venous thrombosis, revealed the new inherited disease homocystinuria in 1962. A new concept of the importance of homocysteine in human disease was developed after the chance observation of rapidly advancing arteriosclerosis in children with different inherited enzymatic abnormalities of homocysteine metabolism by Kilmer McCully in 1969. This concept led to the development of the Homocysteine Theory of Arteriosclerosis, which stimulated an extraordinary effort to understand the importance of homocysteine in human disease by investigators in laboratories and clinics worldwide. As a result of over 17,500 published investigations in subsequent years, the obscure sulfur amino acid homocysteine was elevated to the status of “the cholesterol of the 21st century” because of its prominent involvement in human vascular disease.

Extensive human studies identified the elevation of plasma homocysteine as a potent, independent risk factor for vascular disease, including coronary heart disease, cerebrovascular disease, and peripheral vascular disease. Many other important human diseases were subsequently found to be affected by homocysteine, as described by the authors of several chapters in the present book. These diseases, many of which are correlated with aging, include neurodegenerative diseases and dementia, epilepsy, uremia, osteoporotic fractures, anemia of renal failure, infection by HIV+, glaucoma, macular degeneration, bariatric surgery for obesity, celiac disease and psoriasis. (Imprint: Nova Biomedical )


Chapter 1. Enzyme Misfolding as a Common Pathogenic Mechanism in Cystathionine Beta-Synthase (CBS)-Deficient Homocystinuria: Rescue of CBS Mutants with Chemical Chaperones
(Tomas Majtan, Department of Pediatrics, University of Colorado Denver, Aurora, Colorado, USA)

Chapter 2. Therapeutic Strategies in Murine Models of Hyperhomocysteinemia
(Christophe Noll, Asma Tlili, Jean-Maurice Delabar and Nathalie Janel, University Paris Diderot, Sorbonne Paris Cité, Unit of Functional and Adaptative Biology (BFA), Paris, France and others)

Chapter 3. Homocysteine and Neurodegeneration: Current Concepts and Potential for Intervention
(Gayle H. Doherty, School of Psychology and Neuroscience, University of St. Andrews, Fife, United Kingdom)

Chapter 4. Homocysteine and Apoptotic Factors in Epileptic Patients Treated with Anti-Epileptic Drugs
(Urszula Lagan-Jedrzejczyk, Margarita Lianeri, Wojciech Kozubski and Jolanta Dorszewska, Laboratory of Neurobiology, Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland)
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Chapter 5. Homocysteine and Uremia
(A. Noce, M. Dessi, E. Addessi and N. Di Daniele, Nephrology and Hypertension Unit, Department of Medicine System, ‘Tor Vergata’ University, Rome, Italy and others)

Chapter 6. Homocysteine: An Innovative Risk Factor for Anemia, Bone Disease and Vascular Disease in Chronic Renal Failure Patients
(Marco Righetti, Renal Unit, Uboldo Hospital, Cernusco S/N, Milan, Italy)

Chapter 7. Plasma Homocysteine and Thiol Redox States in HIV+ Patients
(Roberto Carlos Burini, Fernando Moreto, Maria Doroteia Borges-Santos and Yong-Ming Yu, Centre for Nutritional and Physical Exercise Metabolism, Department of Public Health, Botucatu Medical School, UNESP-Sao Paulo State University, Botucatu city, SP, Brazil and others)

Chapter 8. Hyperhomocysteinemia and Association of Eye Disease
(N. Manresa, J. Mulero and P. Zafrilla, Department of Food Techology and Nutrition, Catholic University of San Antonio, Murcia, Spain)

Chapter 9. Homocysteine Concentrations in Obese Patients after Biliopancreatic Bypass Surgery
(Maria Ortiz-Espejo, Ricardo Batanero Maguregui, Juan Antonio Gomez Gerique, Maria Teresa Garcia Unzueta and Maria Dolores Fernandez Gonzalez, Clinical Biochemistry Unit, Department of Endocrinology, Marques de Valdecilla Hospital, Santander, Spain)

Chapter 10. Celiac Disease, Hyperhomocysteinemia and Atherothrombosis: Relationship and Implications
(Jack Ghably, Aaysha Kapila, April Tanner, Reem Hussein, Goral B. Panchal, Karthik Venkataraman and Guha Krishnaswamy, Johnson City Medical Center, Niswonger Childrens Hospital, Johnson City, Tennessee, USA)

Chapter 11. Homocysteine Metabolism, Cardiovascular Disease and Psoriasis
(I. MacDonald, M. Connolly and A.M. Tobin, Department of Dermatology, Tallaght Hospital, Dublin, Ireland)


This book is written for the medical science professional and medical practitioner who is interested in an innovative approach to understanding the causes and potential therapeutic strategies for important diseases of aging. The book may appeal to pharmaceutical industries, public health professionals, and general readers with a knowledge of medical and scientific concepts.

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