Mutations within the inner mitochondrial membrane protein responsible for membrane fusion, Opa1, have been associated with the development of Autosomal Dominant Optic Atrophy: the leading cause of congenital blindness. Evidence of mitochondrial membranes visibly falling apart points in pathogenic cases suggests these mutations may be contributing to Opa1’s ability to bind to lipids within the membrane and carry out fusion; however, this investigation grows difficult without a complete structure determination for Opa1. With that being said, the aim of this research project is to detect if there are any amino acid residues within the projected stalk-loop region of Opa1 that are responsible for lipid interaction as well as whether or not these interactions can be impacted by mutation. This investigation will consist of performing site-directed mutagenesis, protein expression and purification, and a sup-pellet assay comparing lipid-binding of wildtype and mutated Opa1 proteins.

Impact of mutation on potential lipid-binding sites of Opa1 protein

ACS Spring 2022

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