Effects of Betaine in a Murine Model of Mild Cystathionine-β-Synthase Deficiency

Bernd C. Schwahn, Udo Wendel, Suzanne Lussier-Cacan, Mei Heng Mar, Steven H. Zeisel, Daniel Leclerc, Carmen Castro, Timothy A. Garrow, Rima Rozen

Research output: Contribution to journalArticlepeer-review


Cystathionine-β-synthase (CBS) is required for transsulfuration of homocysteine, an amino acid implicated in vascular disease. We studied homocysteine metabolism in mice with mild hyperhomocysteinemia due to a heterozygous disruption of the Cbs gene. Mice were fed diets supplemented with betaine or dimethylsulfonioacetate (DMSA); betaine and DMSA provide methyl groups for an alternate pathway of homocysteine metabolism, remethylation by betaine:homocysteine methyltransferase (BHMT). On control diets, heterozygous mice had 50% higher plasma homocysteine than did wild-type mice. Betaine and DMSA had similar effects in both genotype groups: liver betaine increased dramatically, while plasma homocysteine decreased by 40% to 50%. With increasing betaine supplementation, homocysteine decreased by 75%. Plasma homocysteine and BHMT activity both showed a strong negative correlation with liver betaine. Homocysteinemia in mice is sensitive to a disruption of Cbs and to methyl donor intake. Because betaine leads to a greater flux through BHMT and lowers homocysteine, betaine supplementation may be beneficial in mild hyperhomocysteinemia.

Original languageEnglish (US)
Pages (from-to)594-599
Number of pages6
JournalMetabolism: Clinical and Experimental
Issue number5
StatePublished - May 2004
Externally publishedYes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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