Analysis of transcriptome profile and specific RNA editing in Drosophila ALS model with SOD1 mutations

Description

Abstract:
Amyotrophic Lateral Sclerosis (ALS) is a debilitating disease characterized by progressive degeneration and death of motor neurons in the human body, which leads to disability, paralysis, and eventual death. SOD1(Cu/Zn Superoxide Dismutase 1) is the second-most common ALS-related gene, with mutated forms found in 20 percent of familial cases of ALS. A profound downregulation of ADAR, an RNA editing enzyme, has been observed in spinal motor neurons from ALS patients. By introducing point mutations via ends-out homologous recombination into the endogenous locus of Drosophila melanogaster SOD1, an in vivo model of ALS was made and tested to allow for a better understanding of the disease and the development of potential treatments and therapies. We use the in vivo model to compare the transcriptome of mutant and control fly lines, and to compare the levels of editing at known ADAR mRNA editing sites. Preliminary results suggest that upregulation of defense response pathways may be associated with the disease phenotype. Additionally, while expression of ADAR is decreased in the disease model, significant changes in ADAR’s specific editing activity were not observed.

Citation

Boaful, Godwin, Bredvik, Kirsten, Gaztanaga, Wendy, et al., "Analysis of transcriptome profile and specific RNA editing in Drosophila ALS model with SOD1 mutations" (2014). Summer Research Symposium. Brown Digital Repository. Brown University Library. https://doi.org/10.26300/vgpe-h073

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