Myotubular Trust are delighted to share with you the exciting pre-publication news reported by researcher, Dr Anna Buj-Bello, following the research work which was funded by us.
Dr Anna-Buj Bello reports:
“From 2009 to 2011, Myotubular Trust has supported our team at Genethon to develop therapeutic strategies for myotubular myopathy based on gene therapy. The main aim of this project was to introduce the normal MTM1 gene into muscle cells from the mouse models of the disease. In order to achieve that, we constructed a genetically modified viral vector that carries the MTM1 gene. Administration of this vector to mutant mice leads to the presence of the MTM1 protein in muscles of the body and correction of the severe muscle pathology in these animals. These results are very encouraging and provide proof-of-concept support for future clinical trials in x-linked myotubular myopathy (XLMTM) patients.”
“In addition, since it is known that patients with XLMTM have muscle cells which are smaller than normal, our team has been working on other studies that involve the use of growth factors. Growth factors are molecules that make our cells increase both in number and in size. To test the therapeutic efficacy of a growth factor called insulin-like growth factor-1, or IGF-1 for short, and an inhibitor of myostatin in mice with myotubular myopathy, we have produced the vectors for gene transfer and experiments are currently ongoing in the laboratory.” Dr Anna Buj-Bello.