État de la recherche – Syndrome de Rett Contexte: Le syndrome de Rett est causé par une mutation dans le gène MECP2. La dysfonction de MECP2 n’a pas de conséquences directes sur le fonctionnement de la cellule. Plutôt, MECP2 contrôle l’activation de plusieurs autres gènes, comme un interrupteur. Et donc, lorsque MECP2 ne fonctionne pas, dû à une mutation, les gènes qu’il contrôle ne peuvent pas remplir leur rôle habituel au sein de la cellule. Mais encore, chacun des gènes contrôlés par MECP2 a un rôle spécifique et peut causer un type/sous-groupe de symptômes lorsqu’il ne fonctionne pas correctement. Donc, lorsque MECP2 ne fonctionne pas, plusieurs types de symptômes peuvent apparaître. Ce
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