Project description:We have generated CRISPR edited versions of hESC line MShef11 to produce MFN2 R94Q/+ and MFN2 R94Q/R94Q lines as a model for Charcot Marie Tooth Disease (CMT) 2A. This were differentiated to limb innervating motor neurons, the predominantly affected cell time in CMT2A and RNA was examined to investigate differences in cell lines.
Project description:GDAP1 is a mitochondrial fission factor and mutations in GDAP1 cause Charcot-Marie-Tooth disease. Gdap1 knockout mice, mimicking genetic alterations of patients suffering from severe CMT forms, develop an age-related, hypomyelinating peripheral neuropathy. We used microarrays to determine changes in the expression profiles in the peripheral nervous system before a phenotype was detectable in the animal model (2 month of age).
Project description:The goal of this study was to identify deregulated genes in Schwann cells of Pmp22 transgenic rats in comparison to wildtype rats. Three timepoints in the course of peripheral nerve myelination were chosen (embryonic day [E] 21, perinatal day [P]6 and P18) in order to reveal mechanistic insight into early pathological processes of Charcot-Marie-Tooth disease 1A (CMT1A).
