Bücher von Hussein Mouawia

Le diagnostic prénatal d¿Amyotrophie Spinale (SMA, Spinal Muscular Atrophy) est aujourd¿hui réalisé par l¿analyse de l¿ADN f¿tal isolé par prélèvement de villosités choriales (PVC). Cette méthode invasive constitue la procédure de référence, mais elle est associée à un risque de fausse couche dans environ 2 % des cas. Une approche prometteuse et non invasive pour le diagnostic prénatal de la SMA, ISET (Isolation by Size of Epithelial Tumor/Trophoblastic cells) a été développée et validée dans cette thèse ; des cellules trophoblastiques f¿tales circulant dans le sang maternel (CFTC) sont isolées puis des tests génétiques de génotypage et de séquençage sont appliqués sur le génome de chaque cellule isolée afin de réaliser le diagnostic prénatal. Les résultats obtenus par cette étude constituent le premier cas de validation complète d¿une méthode complètement non invasive de diagnostic prénatal d¿Amyotrophie Spinale.

The NADPH oxidase (NOX)-mediated release of ROS, also called oxidative burst, leads to the elimination of invading microorganisms in macrophages and neutrophils and thereby serves as an inflammatory mediator. For many years, superoxide generation through NOX was thought to occur only in phagocytes; however, several enzymes responsible for ROS production have been recently identified in various tissues, which differ at the molecular level. These enzymes called NOX/DUOX show similarities to phagocytic NOX (NOX2) and are collectively referred to as the NOX family. NOX/DUOX are now considered the major sources of ROS in cells. Theses enzymes are expressed in several cells and tissues, and their products are essential in many physiological settings. Reactive oxygen species (ROS) are small, oxygen-derived molecules that include oxygen radicals, such as superoxide and and other metabolites. NOX/DUOX are electrogenic, alter ion currents across membranes, induce apoptosis, regulate cytokine production, influence gene expression, and have key roles in signal transduction, immune cell functions, hormone biosynthesis, and other normal biological functions.