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>
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