IPRD funded research by Timothy Megraw
Alström syndrome (OMIM 203800) is a rare autosomal recessive disorder with a prevalence of less than 1 per million. A characteristic feature of Alström syndrome is dilated cardiomyopathy. Alström syndrome is caused by mutations in the ALMS1 gene. Alstrom syndrome dilated cardiomyopathy is a mitogenic cardiomyopathy, in which cardiomyocytes continue to proliferate inappropriately. This project will use a Drosophila model in which Alms1 is downregulated in the heart with the goal of understanding the cell biological functions of ALMS1 in cardiomyocytes, with the potential to lead to new avenues for therapeutic interventions.
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