SBI Research Seminar May 11, 2015 at 12.15

Place: Tellus, Scheeles väg 1, plan 5, Karolinska Institutet

Lunchsandwich will be served


Recent advances in the pathophysiology of Charcot-Marie-Tooth disease


Roman Chrast, PhD 

Dept of Neuroscience and Dept of Clin Neuroscience

Karolinska Institutet


Mutations in more than 60 genes affecting glial and/or neuronal functions have been associated with different forms of CMT. In particular, the number of disease genes identified in CMT increased rapidly over the past decade as a consequence of implementation of the use of highly parallel genetic technologies (SNP chips, sequence capture and next-generation DNA sequencing) in CMT families. These discoveries not only contribute to a substantial improvement in the diagnosis of neuropathies but also provide new insight into the understanding of implicated pathophysiological mechanisms. I will use two examples of CMT to demonstrate these developments. Firstly, I will talk about CMT4C, which is an autosomal recessive childhood-onset demyelinating neuropathy caused by mutations in the SH3TC2 gene. In the second part of my talk I will concentrate on CMTRIC, an autosomal recessive intermediate neuropathy caused by mutations in the PLEKHG5 gene. Finally, I will shortly discuss cellular models of peripheral neural system myelination as an interesting alternative for high-throughput modeling of newly discovered neuropathy genes.

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