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

Genes (Basel). 2022 Dec 28;14(1):87. doi: 10.3390/genes14010087.

Abstract

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.

Keywords: Drosophila melanogaster; FMR1 gene; FMRP; FXTAS; Fragile X syndrome.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Ataxia / genetics
  • Autism Spectrum Disorder*
  • Drosophila Proteins* / genetics
  • Drosophila Proteins* / metabolism
  • Drosophila melanogaster / genetics
  • Drosophila melanogaster / metabolism
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Mental Retardation Protein / metabolism
  • Fragile X Syndrome* / genetics

Substances

  • FMR1 protein, Drosophila
  • Drosophila Proteins
  • Fragile X Mental Retardation Protein

Supplementary concepts

  • Fragile X Tremor Ataxia Syndrome

Grants and funding

This research was funded by the Science Fund of the Republic of Serbia, Program IDEA, GRANT No. 7673781 and by The Serbian Ministry of Education, Science and Technological Development (Contract Number: 451-03-68/2022-14/200178).