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Identifying Novel Cardiomyopathy Genes Using Drosophila melanogaster

dc.contributor.advisor Rockman, Howard A Casad, Michelle 2012-05-25T20:06:28Z 2014-05-15T04:30:04Z 2012
dc.description.abstract <p>Traditional <italic>Drosophila</italic> hearts screens have focused on early patterning and development, and adult heart phenotypes have only recently been pursued due to difficulty in accurately measuring cardiac function in adult <italic>Drosophila</italic>. For my dissertation I performed a screen in <italic>Drosophila</italic> using optical coherence tomography (OCT) to phenotype cardiac function in awake, adult <italic>Drosophila</italic>, in order to discover novel disease-causing and disease-modifying genes for heart failure. I initiated a screen of X chromosome deficiency stocks for mutants displaying abnormal cardiac function in the adult, and I identified two mutant strains from the X chromosome with the phenotype of dilated cardiomyopathy. These deficiencies of 125kb and 92kb each correspond to 10 and 16 deleted genes in each, respectively. Interestingly, the candidate genes did not include any sarcomeric proteins, nor any proteins previously implicated in heart function. Utilizing genetic tools including customized deletions, RNAi constructs, and transgenic rescues, I identified the causative gene in each deficiency. I show that cardiomyopathic genes can be identified in adult <italic>Drosophila</italic> using genetics and noninvasive phenotyping methodologies.</p>
dc.subject Cellular biology
dc.subject Genetics
dc.subject cardiomyopathy
dc.subject Drosophila
dc.title Identifying Novel Cardiomyopathy Genes Using Drosophila melanogaster
dc.type Dissertation
dc.department Cell Biology
duke.embargo.months 24

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