Role of Mammalian Disease Genes in Caenorhabditis elegans Development

The midbody is a structure found in cells at the end of cytokinesis. The midbody structure contains bundles of microtubules derived from the mitotic spindle, which compacts during the final stage of cell division.  Although little is known about the midbody, it is known that proteins from the midbody play important roles in cell division.  By studying midbody proteins in the model organism Caenorhabditis elegans, a greater understanding of their importance in cell division and development can be obtained.  Identifying midbody proteins with a connection to human disease and studying their effects in the embryonic development of C. elegans, may allow for a greater understanding of their role in human disease.  Feeding RNA interference (fRNAi) was used to study the effect of depletion of three candidate genes.  Of these candidates, atx-2 displayed a strong embryonic lethal phenotype when knocked down in C. elegans.  Characterization of this phenotype, using live imaging microscopy techniques, may give insight into whether this protein has a role in cytokinesis and/or cell division.  atx-2 has been shown to code for a necessary protein in C. elegans.  Whether or not the underlying cause of this lethality is due to a defect in cytokinesis and/or cell division is still unclear. Subsequently, future experiments are necessary in order to determine the exact role that atx-2 has in this process.  Further study of atx-2 in C. elegans would be beneficial as the human homolog, ATXN2, is the autosomal dominant cause of the neurodegenerative disease spinocerebellar ataxia type 2 (SCA2).