Investigating genetic factors in a model of Huntington's disease

Authors: Lena Paolicelli, Elizabeth Morton

SUNY Campus: SUNY Brockport

Presentation Type: Oral

Location: UUW 324

Presentation #: 5

Timeslot: Session D 3:00-4:00 PM

Abstract: Caenorhabditis elegans is a transparent microscopic model organism used worldwide in biomedical research, such as research to understand Huntington’s disease. Huntington’s disease is caused by a stretch of the amino acid glutamine (a “polyglutamine”) forming protein aggregates. The age of onset of this disease varies. We are investigating the impact of genetic background on polyglutamine aggregation by exploring the relationship between aggregation and ribosomal DNA copy number. Ribosomal DNA (rDNA) is repetitive DNA used to make ribosomal RNA, a central and catalytic component of ribosomes, the organelles that assemble proteins. Using strains of C. elegans with the same polyglutamine stretch but different rDNA copy numbers, we are collecting data on the number of aggregates per individual at a particular age. Aggregates are counted using a fluorescent protein fused to 40 glutamines. Initial results did not show a direct correlation between rDNA copy number and polyglutamine aggregation, but there were multiple significant differences found between strains. Replicates of this experiment will determine if these results are reproducible. Potentially, these results could lay the foundation for expanded research into the timing of aggregation onset, additional repeat numbers, or the mechanism of aggregation.