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ÉDITIONS UNIVERSITAIRES EUROPÉENNES Les Atrophies Optiques Héréditaires: Des pathologies cécitantes génétiquement transmissibles (Omn.Univ.Europ.)

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Description

Les Atrophies Optiques Héréditaires plus précisément l’Atrophie Optique Dominante (AOD) encore appelée la maladie de Kjer est une pathologie à transmission autosomale dominante non–syndromique. Son taux d’incidence s’élève à un cas pour 50 000 habitants dans la population caucasienne. Les premiers symptômes se manifestent souvent dès l’enfance, en entraînant une diminution de l’acuité visuelle chez les individus atteints, puis une dyschromatopsie de l’axe bleu-jaune, un scotome centro-cæcal, pouvant aller jusqu’à la cécité. L’examen histologique des malades présente une perte sélective des Cellules Ganglionnaires de la Rétine (CGRs) dans la région maculaire de l'oeil et une démyélinisation du nerf optique. De plus, les mutations du gène OPA1, situé sur le chromosome 3 en q28-29, sont responsables de cette pathologie. Plus de 100 mutations ont été identifiées. OPA1 code pour une protéine qui a une expression ubiquitaire et a été identifiée comme étant une dynamine GTPase, ancrée dans la membrane interne mitochondriale. Notre problématique est donc d’expliquer pourquoi les patients atteints d'AOD ont une perte sélective des CGRs alors que l’expression d’OPA1 est ubiquiste ?

Product Specifications

Format
paperback
Domain
Amazon UK
Release Date
22 May 2012
Listed Since
07 May 2012

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