Rowe Researcher: Characterization of Drosophila Interacting Genes

Daniel Camacho conducting research at the Health Center.
Daniel Camacho conducting research at the Health Center.

Summer 2012: Characterization of Drosophila Interacting Genes: Elucidating the Mechanism(s) of PolyQ Toxicity in Huntington’s Disease

By Daniel R. Camacho, Ping Zhang, Ph.D.

Polyglutamine expansions are a type of genetic mutation that is responsible for several human neurodegenerative diseases, including Huntington’s disease. The pathology of these diseases involves the accumulation of proteins containing polyglutamine domains within neuronal cells, which ultimately leads to cell death. The mechanism of toxicity of these protein aggregates is currently being investigated. My work involved using the model genetic organism Drosophila melanogaster to try to elucidate aspects of polyglutamine toxicity. The experimental design consisted of carrying out a p-element mutagenesis of the Drosophila genome with the purpose of upregulating genes that interfere with proper eye development. Upon identification of these genes, we proceeded to combine them, one at a time, with an ectopic human polyglutamine gene in the same animal system so as to identify synergistic interaction. This observation would indicate that these two genes interfere with the same pathway. Elucidation of these interacting genes serves to further the understanding of polyglutamine pathology and provides possible targets for future drug therapies that aim to alleviate or even prevent the diseases caused by this class of mutations.

Read Daniel’s thesis.