AUTHOR=Specchia Valeria , Puricella Antonietta , D’Attis Simona , Massari Serafina , Giangrande Angela , Bozzetti Maria Pia 

TITLE=Drosophila melanogaster as a Model to Study the Multiple Phenotypes, Related to Genome Stability of the Fragile-X Syndrome

JOURNAL=Frontiers in Genetics

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2019.00010

DOI=10.3389/fgene.2019.00010

ISSN=1664-8021

ABSTRACT=<p>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 <italic>Fmr1</italic> 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 <italic>dFmr1</italic> gene is the Drosophila ortholog of the human <italic>Fmr1</italic> gene. <italic>dFmr1</italic> mutant flies exhibit synaptic abnormalities, behavioral defects as well as an altered germline development, resembling the phenotypes observed in FraX patients. Therefore, <italic>Drosophila melanogaster</italic> 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 <italic>Drosophila</italic> model and how the gained knowledge may open novel perspectives for understanding the molecular defects causing the disease and for identifying novel therapeutical targets.</p>