as a Model to Study the Multiple Phenotypes, Related to Genome Stability of the Fragile-X Syndrome.
Fiche publication
Date publication
janvier 2019
Journal
Frontiers in genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Dr GIANGRANDE Angela
Tous les auteurs :
Specchia V, Puricella A, D'Attis S, Massari S, Giangrande A, Bozzetti MP
Lien Pubmed
Résumé
Fragile-X syndrome is one of the most common forms of inherited mental retardation and autistic behaviors. The reduction/absence of the functional FMRP protein, coded by the X-linked gene in humans, is responsible for the syndrome. Patients exhibit a variety of symptoms predominantly linked to the function of FMRP protein in the nervous system like autistic behavior and mild-to-severe intellectual disability. Fragile-X (FraX) individuals also display cellular and morphological traits including branched dendritic spines, large ears, and macroorchidism. The gene is the Drosophila ortholog of the human gene. mutant flies exhibit synaptic abnormalities, behavioral defects as well as an altered germline development, resembling the phenotypes observed in FraX patients. Therefore, is considered a good model to study the physiopathological mechanisms underlying the Fragile-X syndrome. In this review, we explore how the multifaceted roles of the FMRP protein have been addressed in the model and how the gained knowledge may open novel perspectives for understanding the molecular defects causing the disease and for identifying novel therapeutical targets.
Référence
Front Genet. 2019 ;10:10