Application of flow cytometry to quantitate collagen VI defects and development of cellular models of congenital muscular dystrophy

STSM Photo

Sergi Garcia, Spain

Research Assistant - Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain

Collagen VI related myopathies are a common group of Congenital Muscular Dystrophies, which are caused by mutations in the genes encoding for collagen VI chains (COL6A1, COL6A2, COL6A3).

Some of these mutations could be corrected in the future by using antisense oligonucleotides (AON) therapies, a possibility that is currently being investigated at Prof. Muntoni´s group at the Dubowitz Neuromuscular Centre in London.

Thanks to the short term scientific mission (STSM) program from COST Action BM1207 I could visit the Dubowitz Neuromuscular Centre from the 18th until the 22nd July 2016. The main purpose of my stay was to learn two different techniques used in preclinical development of therapies based on AONs in order to implement them in our neuromuscular research laboratory located in Barcelona.

One of these methods was flow cytometry to quantify collagen VI expression on primary skin fibroblasts and the posterior analysis and evaluation of results using the FlowJo software. The second procedure consisted in establishing primary myoblast cultures from fresh muscle biopsies, a technique in which the Neuromuscular Biobank at ICH has significant expertise.

In conclusion, this stay at the Dubowitz Neuromuscular Centre in London will be very useful for my future work in order to contribute towards the overall goal of the exon skipping action which is to advance in the development of antisense-mediated exon skipping for rare diseases.

Finally, I would like to thank Prof. Francesco Muntoni’s team for his support and help during my stay at his laboratory.

July 2016