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