Julien Ochala, United Kingdom
Lecturer in Human Physiology, King’s College London
From May 11th to May 15th 2015, I have been to the lab of Dr. Annemieke Aartsma-Rus (DMD Genetic Therapy Group, Department of Human Genetics, LUMC, the Netherlands) and worked with Dr. Maaike Van Putten.
The project we are working on focuses on dystrophin and DMD. Indeed, nowadays, innovative DMD therapeutic interventions, i.e., exon skipping, partially restore dystrophin (up to 50%) and limit the severity of the disease. Despite this crucial advance, it remains unclear how the myonuclei respond to exon skipping. This question can be answered by using skeletal muscle cells from the mouse model that Dr. Annemieke Aartsma-Rus has (mdx-XistΔhs) which exhibits varying, low dystrophin levels (3–47%) due to skewed X-inactivation.
During my 5-day stay in the DMD Genetic Therapy Group (LUMC), we successfully dissected muscles from a large number of mdx-XistΔhs mice and we prepared the samples for further structural analyses where an innovative image processing algorithm applied to confocal images will be used in order to precisely define the 3D dystrophin organisation in relation to myonuclear spatial arrangement.
In summary, this short-term scientific mission was productive and crucial to get muscle samples that will be used to answer the research question mentioned above.