Destabilizing Protein Polymorphisms in the Genetic Background Direct Phenotypic Expression of Mutant SOD1 Toxicity
2009

How Genetic Background Affects SOD1 Toxicity in C. elegans

publication 10 minutes Evidence: moderate

Author Information

Author(s): Gidalevitz Tali, Krupinski Thomas, Garcia Susana, Morimoto Richard I.

Primary Institution: Northwestern University

Hypothesis

The genetic background influences the toxicity of mutant SOD1 proteins in C. elegans.

Conclusion

The presence of destabilizing polymorphisms in the genetic background can enhance the toxicity of SOD1 mutants, leading to distinct phenotypes.

Supporting Evidence

  • Mutant SOD1 proteins exhibited mild toxicity in C. elegans despite strong aggregation.
  • Destabilizing mutations in the genetic background significantly enhanced SOD1 toxicity.
  • Different SOD1 mutations led to distinct toxic phenotypes depending on the genetic background.

Takeaway

This study shows that the genes you inherit can change how harmful certain proteins are in your body, especially in diseases like ALS.

Methodology

The study used a C. elegans model to express different SOD1 mutants and assess their aggregation and toxicity.

Limitations

The study primarily focuses on a single model organism and may not fully represent human disease mechanisms.

Statistical Information

P-Value

p<0.001

Statistical Significance

p<0.001

Digital Object Identifier (DOI)

10.1371/journal.pgen.1000399

Want to read the original?

Access the complete publication on the publisher's website

View Original Publication