Dr. Jocelyn Laporte leads the workgroup “physiopathology of neuromuscular diseases” at the IGBMC in Strasbourg (France).
This group comprises geneticists, molecular-biologists, information scientists, pharmacists and physicians who contribute with their expert knowledge to the comprehensive research program. Thus, DNA analysis for patients with CNM and other muscle disorders are offered. Muscle cells are analyzed for causes and interactions of these disorders. The Natural History is elucidated with animal models and various therapeutic approaches are investigated.
Jocelyn and his group are the vanguard in the field of myotubular myopathy n and centronuclear myopathy. They first described the genes MTM1 and BIN1, promoted new procedures for DNA analysis and described the first mouse and dog models. The group was also involved in the development of the first gene therapy-approach and is now working on a promising alternative therapeutic approach.
This therapeutic approach is based on the observation that in muscles MTM1 and DNM2 are in a certain ratio of concentrations. In patients with mutations in one of these genes this equilibrium is distorted.
Based on their mouse model they found that the reduction of DNM2 nearly totally reverses the centronuclear myopathy. This leads to them working on possibilities of specific DNM2-reduction in patients.
Members of Jocelyn’s group are Belinda Cowling and Johann Böhm, who gave a talk at our family conference in Göttingen 2015 and at the conference #TogetherEvenStronger 2016. Emil and his parents visited Jocelyn and his group in November 2015. Some pictures can be found in this post.
Together with researchers from Heidelberg and Berlin, Jocelyn Laporte contributed to a better molecular understandig of myotubular myopathy.
Selected scientific publications
- Jungbluth, H, Wallgren-Petterson, C, Laporte, J (2008): Centronuclear (myotubular) myopathy. Orphanet Journal of Rare Diseases.
a good overview on several CNM
- Ketel K, Krauss M, Nicot AS, Puchkov D, Wieffer M, Müller R, Subramanian D, Schultz C, Laporte J, Haucke V. (2016) A phosphoinositide conversion mechanism for exit from endosomes. Nature Jan 13 [doi: 10.1038/nature16516] http://www.nature.com/nature/journal/v529/n7586/full/nature16516.html
Belinda S. Cowling, Thierry Chevremont, Ivana Prokic, Christine Kretz, Arnaud Ferry, Catherine Coirault, Olga Koutsopoulos, Vincent Laugel, Norma B. Romero, and Jocelyn Laporte, Reducing dynamin 2 expression rescues X-linked centronuclear myopathy J Clin Invest.2014;124(3):1350–1363. doi:10.1172/JCI71206, http://www.jci.org/articles/view/71206/pdf
- Hichem Tasfaout,Suzie Buono, Shuling Guo, Christine Kretz, Nadia Messaddeq,
Sheri Booten, Sarah Greenlee, Brett P. Monia, Belinda S. Cowling & Jocelyn Laporte, Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice,Nature Communications 8, Article number: 15661 (2017) doi:10.1038/ncomms15661 https://www.nature.com/articles/ncomms15661
The two last articles help in the understanding for the therapeutic approach of the readjustment of the equilibrium between dynamin and myotubularin.