In these days we have made a transfer of € 12,000 to the University of Bologna to finance half of the cost of personnel to move forward with the project coordinated by Prof. Cenacchi with the title “The role of trasportin3 (TNP03) in LGMD1F”. This project, which began two years ago after some preliminary studies of this team in 2013, aims to clarify the role of Transportina 3 (TNPO3) in skeletal muscle both under normal conditions and in the case of our Limb-girdle Muscular Dystrophy 1F.
The role of TNPO3 in muscle is unknown and in these years several hypotheses have been made about how the mutation in TNPO3 causes LGMD1F but currently there is still no certainty about how the disease is generated.
The main objective of this project is to create two study models of the LGMD1F: one in vitro with cell cultures and a second in vivo with an animal model of zebrafish.
In this way we will have clearer the activity of the TNPO3 in the skeletal muscle that will help us to understand how the defect in Transportina 3 originates the LGMD1F.
We want to thank Prof. Cenacchi, Dr. Roberta Costa and Dr. Maria Teresa Rodia, not only for their work and commitment, but also for their human qualities and their support and collaboration with the Conquistando Escalones Association.
As well as all the partners of Conquistando Escalones, donors, collaborators and everyone who attends our events, for helping us raise funds and pay for research.