Department of Biological Sciences
Wehr Life Sciences, 109
1428 W. Clybourn St.
Milwaukee, WI 53233
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In September 2019, Dr. Rosemary Stuart was awarded a three year, $453,000 NIH R15 AREA Award to investigate, "Establishing a disease-model system to functionally characterize the mL44 protein, a component of the membrane protuberance region of the mitoribosome".
A major objective of this funded NIH R15 project is to continue to provide innovative and transformative research and training opportunities for both undergraduate and graduate students.
Recent clinical studies have demonstrated that mutation of the human mitoribosomal MRPL44 (mL44) is directly linked to childhood-onset hypertrophic cardiomyopathy and a progressive multisystem disease with neurological and neuro-ophthalmological impairment. This disease is caused by a homozygous mutation of residue Leu156(Arg) in a structurally conserved region of the mL44 protein family. The goal of this funded research project is to perform a feasibility study to explore the use of the yeast Saccharomyces cerevisiae (S. cerevisiae) as a genetic and biochemically tractable organism for modeling human mitochondrial diseases caused by defects in the mitoribosomes, and specifically in the mL44 protein. We aim to functionally characterize the yeast mL44 protein, MrpL3 and its partner proteins MrpL15/mL57 and to specifically to model the MRPL44 Leu156(Arg) disease in this organism.