Our research is focused on a family of proteins known as the ferlins, which help regulate membrane trafficking events and have been linked to several human pathologies. Specifically, work currently focuses on the muscle protein dysferlin, which is believed to catalyze fusion between the plasma membrane and intracellular vesicles in response to elevated calcium levels. Mutations in dysferlin have been implicated in several forms of muscular dystrophy, suggesting a key role for the protein in muscle physiology. Also of interest is otoferlin. Although still unclear, otoferlin may modulate the release of neurotransmitter and the encoding of sound in the brain. Mutations in otoferlin have been linked to deafness in human patients. We are currently characterizing both of these calcium sensing proteins in an attempt to understand the exact contributions of these proteins to membrane fusion, as well as the basis for why mutants in dysferlin and otoferlin result in muscular dystrophy and deafness.
