Drosophila melanogaster as a Model to Study Fragile X-Associated Disorders

Trajković, Jelena; Makevic, Vedrana; Pešić, Milica; Pavković-Lučić, Sofija; Milojevic, Sara; Cvjetković, Smiljana; Hagerman, Randi J.; Budimirović, Dejan B.; Protić, Dragana

doi:10.3390/genes14010087

Cited by 4 publications

(4 citation statements)

References 104 publications

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“…According to previous molecular research, SI impairment in the D. melanogaster model of FXS is based on lack of dFMRP. (reviewed in: [ 10 , 11 ]). Dockendorf et al (2002) showed that dFMR1 B55 mutants exhibit altered courtship and mating behavior [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

“…Animal models have played a crucial role in advancing the understanding of FXS. Commonly used animal models include Fmr1 knock-out (KO) mice, Fmr1 KO zebrafish, and the Drosophila melanogaster ( D. melanogaster ) model of FXS, where the only ortholog of human FMR1 ( Fmr1 , FlyBase ID: FBgn0028734, herein dFMR1 ) is mutated [ 8 , 9 , 10 , 11 , 12 ]. D. melanogaster , commonly known as the fruit fly, has a well-characterized nervous system and genetic manipulations can be performed to mimic the genetic mutations associated with FXS.…”

Section: Introductionmentioning

confidence: 99%

“…D. melanogaster , commonly known as the fruit fly, has a well-characterized nervous system and genetic manipulations can be performed to mimic the genetic mutations associated with FXS. D. melanogaster represents a valuable model for understanding the molecular and neurological aspects of the syndrome [ 10 , 11 ]. It is well known that phenotypes in dFMR1 mutants closely resemble the phenotypes in individuals with FXS.…”

Section: Introductionmentioning

confidence: 99%

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Using a Combination of Novel Research Tools to Understand Social Interaction in the Drosophila melanogaster Model for Fragile X Syndrome

Stojkovic,

Petrovic,

Capovilla

et al. 2024

Biology

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Fragile X syndrome (FXS), the most common monogenic cause of inherited intellectual disability and autism spectrum disorder, is caused by a full mutation (>200 CGG repeats) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. Individuals with FXS experience various challenges related to social interaction (SI). Animal models, such as the Drosophila melanogaster model for FXS where the only ortholog of human FMR1 (dFMR1) is mutated, have played a crucial role in the understanding of FXS. The aim of this study was to investigate SI in the dFMR1B55 mutants (the groups of flies of both sexes simultaneously) using the novel Drosophila Shallow Chamber and a Python data processing pipeline based on social network analysis (SNA). In comparison with wild-type flies (w1118), SNA analysis in dFMR1B55 mutants revealed hypoactivity, fewer connections in their networks, longer interaction duration, a lower ability to transmit information efficiently, fewer alternative pathways for information transmission, a higher variability in the number of interactions they achieved, and flies tended to stay near the boundaries of the testing chamber. These observed alterations indicate the presence of characteristic strain-dependent social networks in dFMR1B55 flies, commonly referred to as the group phenotype. Finally, combining novel research tools is a valuable method for SI research in fruit flies.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Using a Combination of Novel Research Tools to Understand Social Interaction in the Drosophila melanogaster Model for Fragile X Syndrome

Stojkovic,

Petrovic,

Capovilla

et al. 2024

Biology

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“…FXS preclinical research on animals is limited to a few models, such as the Fmr1 knock-out (KO) mice, the Fmr1 KO zebrafish and the Drosophila melanogaster model of FXS (Fmr1, FBgn0028734 [17]; herein named dFMR1) such as dFMR1 B55 mutants [18][19][20]. The dFMR1 B55 allele is one example of the Drosophila melanogaster model of FXS.…”

Section: Introductionmentioning

confidence: 99%

Circadian Rhythm and Sleep Analyses in a Fruit Fly Model of Fragile X Syndrome Using a Video-Based Automated Behavioral Research System

MILOJEVIC,

Ghosh,

Makevic

et al. 2024

Preprint

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Fragile X syndrome (FXS) is caused by the full mutation in the FMR1 gene on the Xq27.3 chromosome region. It is the most common monogenic cause of Autism Spectrum Disorder (ASD) and inherited intellectual disability (ID). Besides ASD, ID and other issues, individuals with FXS may exhibit sleep problems and impairment of circadian rhythm (CR). The Drosophila melanogaster models of FXS, such as dFMR1B55, present excellent model for research in the FXS field. During this study, sleep pattern and CR in dFMR1B55 mutants were analyzed, using a new platform based on continuous high-resolution videography in integration with a highly-customized version of software. This methodology provides more sensitive results, which could be crucial for all further research in this model of fruit flies. The study revealed that dFMR1 B55 male mutants can be considered weak rhythmic flies rather than totally arrhythmic, and present a good alternative animal model of genetic disorder, which includes impairment of CR and sleep behavior. The combination of videography and software used in the current study should be recommended as a gold-standard methodology for such further research.

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From wings to whiskers to stem cells: why every model matters in fragile X syndrome research

Sandoval,

Méndez-Albelo,

et al. 2024

J Neurodevelop Disord

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Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps.

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Drosophila melanogaster as a Model to Study Fragile X-Associated Disorders

Cited by 4 publications

References 104 publications

Using a Combination of Novel Research Tools to Understand Social Interaction in the Drosophila melanogaster Model for Fragile X Syndrome

Using a Combination of Novel Research Tools to Understand Social Interaction in the Drosophila melanogaster Model for Fragile X Syndrome

Circadian Rhythm and Sleep Analyses in a Fruit Fly Model of Fragile X Syndrome Using a Video-Based Automated Behavioral Research System

From wings to whiskers to stem cells: why every model matters in fragile X syndrome research

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