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Year:: 2014
Contributor:: Boaful, Godwin (creator); Bredvik, Kirsten (creator); Gaztanaga, Wendy (creator); Green, Ryan (creator); Hackney, Joshua (creator); Navarrete, Karla (creator); Palaychuk, Natalie (creator); Sabetta, Dina (creator); Xia, Jimmy (creator); Howard Hughes Medical Institute (research program); Reenan, Robert (advisor)
Genre:: posters
Subject:: ALS; Knock-in model; EMS; Mutagenesis
DOI: https://doi.org/10.26300/ya40-p918

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Abstract:: Amyotrophic Lateral Sclerosis (ALS) is the most common adult-onset neurodegenerative disorder, and is characterized by progressive motor neuron loss that results in muscle weakness, paralysis and eventually death. The molecular mechanisms underlying ALS remain largely unknown, in part, because most animal models of ALS fail to accurately mirror the disease. Whereas many labs have used transgenic overexpression models to produce an ALS phenotype, the Reenan lab has developed a knock-in genetic model in Drosophila. This model introduces specific mutations with known linkage to ALS in humans into the Drosophila SOD1 gene locus. We observed a variety of disease phenotypes ranging in severity and onset, depending on the mutation introduced. This study seeks to further characterize the phenotypes of the various mutant lines. Imaging analysis of the most severe genotype, G85R/G85R, reveals a withered leg phenotype that may correlate to the muscle atrophy seen in human ALS. Additionally, while previous work has shown that H71Y/H71Y mutants are highly susceptible to the introduction of reactive oxygen species, the mutant lines included in the present study appeared to be only moderately susceptible to oxidative stress. We are currently performing a standard EMS mutagenesis suppressor screen. Notably, we have collected a number of surviving flies that appear healthy. However, further work is necessary to confirm the presence of a suppression mutation. We hope the completion of this screen will provide insight into the molecular mechanisms of this disease.

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Boaful, Godwin, Bredvik, Kirsten, Gaztanaga, Wendy, et al., "Characterization and suppression of SOD1-mediated ALS phenotype in Drosophila melanogaster knock-in model" (2014). Summer Research Symposium. Brown Digital Repository. Brown University Library. https://doi.org/10.26300/ya40-p918

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Summer Research Symposium

Each year, Brown University showcases the research of its undergraduates at the Summer Research Symposium. More than half of the student-researchers are UTRA recipients, while others receive funding from a variety of Brown-administered and national programs and fellowships and go …
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Characterization and suppression of SOD1-mediated ALS phenotype in Drosophila melanogaster knock-in model