TY - JOUR
T1 - Drosophila melanogaster as a Model to Study Fragile X-Associated Disorders
AU - Trajković, Jelena
AU - Makevic, Vedrana
AU - Pesic, Milica
AU - Pavković-Lučić, Sofija
AU - Milojevic, Sara
AU - Cvjetkovic, Smiljana
AU - Hagerman, Randi
AU - Budimirovic, Dejan B.
AU - Protic, Dragana
N1 - Funding Information:
Dejan B. Budimirovic has received funding from Zynerba Pharmaceuticals (ZYN2-CL-017, ZYN2-CL-033) as a principal investigator on clinical trials in FXS. He also consulted on clinical trial outcome measures in FXS (Seaside, Ovid). All the above funding has been directed to the Kennedy Krieger Institute/the Johns Hopkins Medical Institutions; Dejan B. Budimirovic receives no personal funds, and the Institute has no relevant financial interest in any of the commercial entities listed. Other authors declare no conflict of interest.
Funding Information:
This publication is supported by the Science Fund of the Republic of Serbia, Program IDEA, GRANT No. 7673781, “Polyphenols as potential targeted treatments in D. melanogaster model of fragile X syndrome”, POLYFRAX_Drosophila and by The Serbian Ministry of Education, Science and Technological Development (Contract Number: 451-03-68/2022-14/200178). The authors are solely responsible for the content of this publication, and this content does not express the attitudes of the Science Fund of the Republic of Serbia.
Publisher Copyright:
© 2022 by the authors.
PY - 2023/1
Y1 - 2023/1
N2 - Fragile X syndrome (FXS) is a global neurodevelopmental disorder caused by the expansion of CGG trinucleotide repeats (≥200) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. FXS is the hallmark of Fragile X-associated disorders (FXD) and the most common monogenic cause of inherited intellectual disability and autism spectrum disorder. There are several animal models used to study FXS. In the FXS model of Drosophila, the only ortholog of FMR1, dfmr1, is mutated so that its protein is missing. This model has several relevant phenotypes, including defects in the circadian output pathway, sleep problems, memory deficits in the conditioned courtship and olfactory conditioning paradigms, deficits in social interaction, and deficits in neuronal development. In addition to FXS, a model of another FXD, Fragile X-associated tremor/ataxia syndrome (FXTAS), has also been established in Drosophila. This review summarizes many years of research on FXD in Drosophila models.
AB - Fragile X syndrome (FXS) is a global neurodevelopmental disorder caused by the expansion of CGG trinucleotide repeats (≥200) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. FXS is the hallmark of Fragile X-associated disorders (FXD) and the most common monogenic cause of inherited intellectual disability and autism spectrum disorder. There are several animal models used to study FXS. In the FXS model of Drosophila, the only ortholog of FMR1, dfmr1, is mutated so that its protein is missing. This model has several relevant phenotypes, including defects in the circadian output pathway, sleep problems, memory deficits in the conditioned courtship and olfactory conditioning paradigms, deficits in social interaction, and deficits in neuronal development. In addition to FXS, a model of another FXD, Fragile X-associated tremor/ataxia syndrome (FXTAS), has also been established in Drosophila. This review summarizes many years of research on FXD in Drosophila models.
KW - Drosophila melanogaster
KW - FMR1 gene
KW - FMRP
KW - FXTAS
KW - Fragile X syndrome
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U2 - 10.3390/genes14010087
DO - 10.3390/genes14010087
M3 - Review article
C2 - 36672829
AN - SCOPUS:85146859315
SN - 2073-4425
VL - 14
JO - Genes
JF - Genes
IS - 1
M1 - 87
ER -