Ferdinando Fiumara

Ferdinando Fiumara, MD, PhD

University of Turin
Basic Research: $150,000

Pathophysiological structure, interactomics, and function of the N-terminus of MeCP2-E1 and its disease-related mutations

One of the main ways that proteins regulate cell activity is by interacting with other proteins. Which proteins another protein interacts with is determined by its shape, and this shape can be altered by mutations. A part of MeCP2-E1, the variant of the MeCP2 protein that is the most common in the brain, is thought to be involved in protein-protein interactions because of its similarity to other protein sequences known to serve this function. Dr. Fiumara’s lab will study the shape of this part of MeCP2-E1 (called the N-terminus) and how it is affected by some of the MeCP2 mutations that cause Rett syndrome. The lab will also conduct a contact tracing project of sorts to define the protein-protein interaction network of the normal and mutant MeCP2-E1 N-terminus thereby providing new insight into the processes that go awry in Rett syndrome.