Molecular Basis of GRACILE Syndrome, Bjornstad Syndrome, and Complex III Deficiency
Current research project of the Rare Disease Research group.
GRACILE syndrome, Björnstad syndrome, and Complex III deficiency are rare diseases caused by mutations to the same protein, Bcs1. Bcs1 is a chaperone protein that assists with Complex III assembly of the respiratory chain in the mitochondria. Much is still to be learned about the mechanism of Bcs1 transport to the mitochondria and the mechanism by which it aids in Complex III assembly. The collection of mutations observed in the three rare diseases listed above offer the opportunity to gain insight into these essential mechanisms. We are developing a yeast model system in which to study these disease mutations and use genetic and biochemical approaches to begin to understand structure-function relationships between various disease mutations and their phenotypic outcomes.
Come learn about current research efforts in rare diseases that affect members of the local community and hear from local patients and their families about living with rare diseases.
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