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Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene

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Abstract

Cystathionine beta synthase (CBS) is the only reaction that removes homocysteine from methionine cycle and redirects it to the transsulfuration pathway. The c.[833T>C;844_845ins68] mutation in the CBS gene has been reported initially as corresponding to classic homocystinuria. Studies showing that the insertion is associated with very smalls amounts of the transcript in the nucleus; others suggest that the heterozygous and homozygous subjects are protected against hyperhomocysteinemia and that the insertion tends to rescue the protein function. The liver is the major organ which metabolizes the circulating homocysteine to cystathionine. We have determined the sequence of the liver mRNA corresponding to the CBS c.[833T>C;844_845ins68] gene. We have shown that a novel splicing event could account for the modification in protein and possibly in enzyme activity.

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Authors and Affiliations

  1. INSERM UMR-S 747, 45 rue des saints pères, 75270, Paris cedex 06, France

    Jean-François Chassé & Robert Barouki

  2. Laboratoire de Biochimie, APHP, Hopital Europeen Georges Pompidou, Paris, France

    Jean-François Chassé

  3. Université Paris Descartes, Paris, France

    Jean-François Chassé & Robert Barouki

  4. Laboratoire de Biochimie, APHP, Hopital Necker, Paris, France

    Robert Barouki

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  1. Jean-François Chassé
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Correspondence to Jean-François Chassé.

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Chassé, JF., Barouki, R. Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene. Mol Cell Biochem 332, 183–187 (2009). https://doi.org/10.1007/s11010-009-0189-z

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  • DOI: https://doi.org/10.1007/s11010-009-0189-z

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