- Title Information
- Title
- Characterization and suppression of SOD1-mediated ALS phenotype in Drosophila melanogaster knock-in model
- 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.
- Name:
Personal
- Name Part
- Boaful, Godwin
- Role
- Role Term
- creator
- Name:
Personal
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- Bredvik, Kirsten
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- creator
- Name:
Personal
- Name Part
- Gaztanaga, Wendy
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- creator
- Name:
Personal
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- Green, Ryan
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- creator
- Name:
Personal
- Name Part
- Hackney, Joshua
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- creator
- Name:
Personal
- Name Part
- Navarrete, Karla
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- creator
- Name:
Personal
- Name Part
- Palaychuk, Natalie
- Role
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- creator
- Name:
Personal
- Name Part
- Sabetta, Dina
- Role
- Role Term
- creator
- Name:
Personal
- Name Part
- Xia, Jimmy
- Role
- Role Term
- creator
- Name:
Corporate
- Name Part
- Howard Hughes Medical Institute
- Role
- Role Term
- research program
- Name:
Personal
- Name Part
- Reenan, Robert
- Role
- Role Term
- advisor
- affiliation
- Brown University. Department of Molecular Biology,Cellular Biology and Biochemistry
- Origin Information
- Publisher
- Brown University
- Date Created
(encoding="w3cdtf")
- 2014-08-07
- Place
- Place Term:
Text
- Providence
- Genre (aat)
- posters
- Subject (Local)
- Topic
- ALS
- Subject (Local)
- Topic
- Knock-in model
- Subject (Local)
- Topic
- EMS
- Subject (Local)
- Topic
- Mutagenesis
- Identifier:
DOI
- 10.26300/ya40-p918
- Type of Resource
- text