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HASSAN ZIAD

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Soutenance de thèse de ZIAD HASSAN

Etude des mécanismes physiopathologiques à l’origine des dysfonctionnements du système nerveux central associés aux maladies rares du métabolisme de la vitamine B12 et innovation thérapeutique

Study of the molecular mechanisms at the origin of the neurocognitive impairment associated with rare genetic diseases of the vitamin B12 metabolism and therapeutic innovation

Jury

Rapporteur - MOISAN - Marie-Pierre - Université de Bordeaux
Rapporteur - CASSEL - Jean-Christophe - Université de Strasbourg
Examinateur - GRANDEMANGE - Stéphanie - Université de Lorraine
CoDirecteur de these - COELHO - David - Université de Lorraine



école doctorale

BioSE - Biologie Santé Environnement

Laboratoire

NGERE - Nutrition-Génétique et Exposition aux Risques Environnementaux

Mention de diplôme

Sciences de la Vie et de la Santé - BioSE
Lepois Faculté de médecine, université de Lorraine. Vandœuvre-lès-Nancy
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Mots clés

molécules innovantes,Nutrition,pathologies neurocognitives,

Résumé de la thèse

Genetic defects in vitamin B12 or cobalamin (cbl) metabolism lead to a decrease in methionine synthase activity associated with changes in genes expression such as decreased expression of SIRT1. Patients with inherited defects affecting methionine synthase activity present mainly with hematological but also neurological symptoms that persist despite conventional treatment and correction of biochemical parameters.

Keywords

neurocognitive pathologies,innovative molecules,nutrition,

Abstract

Genetic defects in vitamin B12 or cobalamin (cbl) metabolism lead to a decrease in methionine synthase activity associated with changes in genes expression such as decreased expression of SIRT1. Patients with inherited defects affecting methionine synthase activity present mainly with hematological but also neurological symptoms that persist despite conventional treatment and correction of biochemical parameters.
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