Investigation of the role of dynamin mediated and mitochondrial pathways in the background of centronuclear myopathy
Preliminary experiments (Gál A.) showed that mitochondrial phusion activity was changed in response to DNM2 mutations. In this project we examine the role of the well conserved NDPK/Dynamin interaction in mitochondrial dynamics, furthermore we analyze how the patient-derived DNM2 R369W mutation influences the above processes. In order to understand the effects of the R369W missense mutation, we use fibroblast from patients and healthy individuals and a C. elegans model.
Anikó Gál - Krisztina Takács-Vellai