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Implications des folates et/ou cobalamines dans la survenue et la pathologie de la trisomie 21

Abstract : Trisomy 21 is the most common genetic cause of human mental retardation. It determines a characteristic syndrome: Down syndrome, associating mental deficiency, malformations and neurological signs characteristic of Alzheimer disease. However these disorders are also observed in the event of deficiency in folates and cobalamines. These two vitamins play a capital part in the processes of methylation, the synthesis of ADN and the development of the foetus. Moreover, two genes of the cycle of the folates are localised on chromosome 21: CBS and RFC. Our assumption is thus the following one: DS could be du to hypomethylation caused by a deficit of the enzymes implied in the one carbon metabolism (MTHFR, MTR, MTRR, CBS and RFC). Moreover, hypomethylation leads to the nondisjunction of the chromosomes during meiosis so their probable role in occurred of trisomy 21. We thus studied, the impact of these 2 vitamins in occurred and pathology related to Ts21 by the study of various polymorphisms of implied genes and by measuring biochemical factors (Homocystéine, B9, B12). Moreover, we studied, in vitro, on trisomic fibroblasts of patients in culture, the state of methylation according to the senescence and quantified the form of the folates carrier (RFC and FR).
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Submitted on : Thursday, March 29, 2018 - 10:45:30 AM
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  • HAL Id : tel-01746822, version 1



Nathalie Fillon-Emery. Implications des folates et/ou cobalamines dans la survenue et la pathologie de la trisomie 21. Biochimie, Biologie Moléculaire. Université Henri Poincaré - Nancy 1, 2003. Français. ⟨NNT : 2003NAN10187⟩. ⟨tel-01746822⟩



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