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Molecular Biology of Cystathionine β-Synthase: Interrelationships with Homocysteine, Pyridoxine, and Vascular Disease

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Book cover Homocysteine and Vascular Disease

Part of the book series: Developments in Cardiovascular Medicine ((DICM,volume 230))

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Summary

Cystathionine β-synthase (CBS) catalyzes the condensation of homocysteine with serine to form cystathionine, an irreversible step in the biosynthesis of cysteine. This reaction plays a key role in the determination of plasma homocysteine levels. Individuals lacking CBS activity (classical CBS deficiency or homocystinuria) have extremely elevated plasma homocysteine levels and have severe arteriosclerosis at relatively young ages. These findings led to the initial interest in homocysteine as a risk factor for vascular disease. In this chapter we will examine various aspects of CBS and CBS deficiency. We will review CBS enzymology, regulation, and the relationship between CBS and pyridoxine. In addition, we will discuss the molecular genetics of CBS deficiency and how mutations in CBS affect plasma homocysteine in the heterozygous and homozygous state. Finally, we will discuss the potential of drugs targeted at CBS to control plasma homocysteine levels.

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Authors
  1. Warren D. Kruger
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  2. Brian Fowler
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  1. Department of Cardiology, The Cleveland Clinic Foundation, Desk F15, 9500 Euclid Avenue, 44195, Cleveland, Ohio, USA

    Killian Robinson

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Kruger, W.D., Fowler, B. (2000). Molecular Biology of Cystathionine β-Synthase: Interrelationships with Homocysteine, Pyridoxine, and Vascular Disease. In: Robinson, K. (eds) Homocysteine and Vascular Disease. Developments in Cardiovascular Medicine, vol 230. Springer, Dordrecht. https://doi.org/10.1007/978-94-017-1789-2_18

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  • DOI: https://doi.org/10.1007/978-94-017-1789-2_18

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