Hyperhomocysteinemia: genetic determinants and selected mouse models

Homocysteine, a member of the methionine metabolic pathway, has been implicated in a number of pathologic conditions, including cardiovascular disease and cancer. Although severe hyperhomocysteinemia is found in a number of inborn errors of metabolism, mild hyperhomocysteinemia is of concern because of its prevalence in the general population and its effect on the incidence of disease states. A number of genes and common polymorphisms in these genes have been described that can influence total plasma homocysteine levels. Additionally, the power of mouse genetics has been employed to understand the genetic determinants of total plasma homocysteine levels. This review focuses on common polymorphisms and several relevant mouse models and their role in understanding the control of homocysteine levels.