BMI/PRISM Combined Seminar Series

Thursday February 5th

Room: GB06

Time: 11:30 am-12:30 pm

Presenter: Dr. Scot Leary University of Saskatchewan

"Clinical heterogeneity tied to mitochondrial dysfunction: attempting to undo an associated knot with mouse model and proximity ligation studies of SCO1"

The underlying cause(s) of clinical heterogeneity tied to loss of mitochondrial function remains an enduring mystery in the field. My talk will therefore focus on the lab’s past and ongoing efforts to understand why patients with distinct mutations in the mitochondrial metallochaperone SCO1 present with unique, tissue-specific deficits that lead to early onset, fatal forms of disease. More specifically, I will present evidence that loss of SCO1 function in the liver leads to unexpected, cell non-autonomous regulation of immune cell development and viability that likely culminates in systemic immunosuppression. I will also present evidence from a proximity ligation study that each pathogenic variant of SCO1 has unique effects on its neighbourhood when compared to the wild-type protein, both with respect to its composition and relative affinity for interacting partners. Finally, I will focus on validation studies of SCO1 interactions important to cytochrome c oxidase assembly and lipid metabolism to further illustrate the potential of proximity ligation studies to uncover novel insights into how unique disease-causing variants may perturb distinct aspects of mitochondrial function.

 

Next BMI/PRISM Combined Seminar

Thursday February 12th

 Presenter: Dr. Mark Glover University of Alberta

 

 

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