Autosomal Dominant Optic Atrophy (ADOA) is a hereditary form of blindness, in which the most common cause is a mutation in Opa1, a protein involved in the fusion of the inner mitochondrial membrane. So far, it is known that mutations in the protein impact the functioning of the optic nerve and it’s relaying the signal taken in by the retina. The goal of this research is to look closely at how mutations in the sequence of the protein impact how the protein interacts with itself, through dimerization. Specifically, this project’s interest is in a proline to a leucine mutation in the top of the stalk region of the protein, which is speculated to influence how the lower portion of the stalk bonds to another. This mutation may impact the functioning of the inner mitochondrial membrane as it relates to ADOA, which is why it is of interest. Currently, the project is at the stage of cloning a plasmid containing the Opa1 mutant in bacteria to further analyze.

Impact of mutation L593P on catalytic efficiency and dimerization in Opa1

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