Pluripotent stem cell models to investigate tissue specific protein interactions in the mitochondrial disease Sengers Syndrome

Department / Centre
Biochemistry and Pharmacology
Primary Supervisor Email Number Webpage
Dr Ann Frazier ann.frazier@mcri.edu.au

Summary Our research focuses on disorders of mitochondrial energy generation, which cause a wide range of diseases and affect ~1/5000 individuals. There are no effective treatments and the pathological mechanisms of mitochondrial diseases are not well established.We use a variety of models to investigate mitochondrial diseases, including both mouse and cell culture systems, such as pluripotent stem cells that can be differentiated into cardiac or neuronal lineages to investigate the most commonly affected tissues. Using genomic, molecular and biochemical approaches, our investigations explore cellular and mitochondrial pathways relevant to disease pathogenesis, and investigate therapeutic compounds targeting pathways affected by mitochondrial dysfunction.




Key Contact

For further information about this research, please contact a supervisor.

Department / Centre

Biochemistry and Pharmacology


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