Dysferlin Binding Partners

Isabelle Richard, PhD

Généthon (Evry, France)

Dr. Richard is the Research Director at the CNRS and the Head of the "Limb-Girdle Muscular Dystrophies" lab in Généthon (Evry, France).

Past Projects

Objective: 
Determine if the newly identified dysferlin binding partners Optineurin and APPL1 contribute to the pathology in dysferlinopathy

This project focuses on identifying the role of the interaction between dysferlin and APPL1 and optineurin. APPL1 is involved in intracellular signaling to the nucleus which may alter gene expression through regulation of nucleosome complex and histone acetylase activity. Optineurin is involved in intracellular trafficking and signaling via disparate mechanisms. The goal of this project is to assess whether the localization or function of these dysferlin interacting proteins are impaired in the absence of dysferlin, and whether their absence contributes to the pathogenesis observed in LGMD2B/Miyoshi myopathy. Localization studies are being performed in the presence and absence of dysferlin, APPL1 and optineurin following selective shRNA knockdown by viral transfection. The large strain injury model will be used to determine the functional consequences of APPL1 and optineurin knockdown.