Drosophila melanogaster Models of Friedreich's Ataxia

BioMed Research International
P Calap-QuintanaJosé Vicente Llorens

Abstract

Friedreich's ataxia (FRDA) is a rare inherited recessive disorder affecting the central and peripheral nervous systems and other extraneural organs such as the heart and pancreas. This incapacitating condition usually manifests in childhood or adolescence, exhibits an irreversible progression that confines the patient to a wheelchair, and leads to early death. FRDA is caused by a reduced level of the nuclear-encoded mitochondrial protein frataxin due to an abnormal GAA triplet repeat expansion in the first intron of the human FXN gene. FXN is evolutionarily conserved, with orthologs in essentially all eukaryotes and some prokaryotes, leading to the development of experimental models of this disease in different organisms. These FRDA models have contributed substantially to our current knowledge of frataxin function and the pathogenesis of the disease, as well as to explorations of suitable treatments. Drosophila melanogaster, an organism that is easy to manipulate genetically, has also become important in FRDA research. This review describes the substantial contribution of Drosophila to FRDA research since the characterization of the fly frataxin ortholog more than 15 years ago. Fly models have provided a comprehensive characte...Continue Reading

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Citations

Jul 18, 2019·Expert Opinion on Pharmacotherapy·Alexandra ClayDavid R Lynch
Jul 30, 2020·Antioxidants·Laura R RodríguezJuan Antonio Navarro Langa
Jul 11, 2018·International Journal of Molecular Sciences·Véronique MonnierJuan Antonio Navarro
Mar 6, 2019·Frontiers in Neuroscience·José Vicente LlorensMaría Dolores Moltó

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Methods Mentioned

BETA
cDNA library
transgenic
genetic modification
nuclear translocation

Software Mentioned

Phyre
Chimera

Related Concepts

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Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.