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Dérégulations de la synthèse vitamine B12 dépendante de la méthionine dans les maladies monogéniques et les malformations du tube neural

Abstract : We studied the methylation pathways in liver tissue from fetal NTDs and controls. We identified a vitamin B12 and SAM deficiency and also decreased activities of MTR and MTHFR in NTDs tissue. These results provide evidence that vitamin B12 supplementation should be associated with folate supplementation in early pregnancy in order to prevent the occurrence of these NTDs. We also studied the interactions of MTR with MMACHC by using cell lines patients with MTR and MMACHC deficiency. This study suggests a regulatory role of MTR in the intracellular CNCbl metabolism by splicing of two MTR transcripts encoding the functional enzyme of the expected size and a truncated non-functional protein, respectively.
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https://hal.univ-lorraine.fr/tel-02317887
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Submitted on : Wednesday, October 16, 2019 - 2:15:40 PM
Last modification on : Tuesday, October 13, 2020 - 10:45:47 AM

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  • HAL Id : tel-02317887, version 1

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Ma’atem Béatrice Fofou-Caillierez. Dérégulations de la synthèse vitamine B12 dépendante de la méthionine dans les maladies monogéniques et les malformations du tube neural. Biologie du développement. Université de Lorraine, 2012. Français. ⟨NNT : 2012LORR0311⟩. ⟨tel-02317887⟩

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