mRNA Sequencing of CMT2A, CMT1A patients and Normal human fibroblasts

We performed RNA sequencing on the 3 CMT2A-causing MFN2 mutations patient cell lines and 3 normal control lines, all cultured in galactose, we found striking transcriptional signature for CMT2A was present. And the CMT2A fibroblast transcriptional signature was >90% different from that of primary fibroblasts from a patient with CMT1 with a duplication mutation within the PMP22 gene. Overall design: Comparison transcritional signature among CMT2A, CMT1A patients and Normal human fibroblasts

我们对3株携带致CMT2A型腓骨肌萎缩症的MFN2突变的患者细胞系，以及3株正常对照细胞系开展了RNA测序（RNA sequencing），所有细胞系均在半乳糖培养基中培养。研究发现，CMT2A存在显著的特异性转录特征；且CMT2A成纤维细胞的转录特征与携带PMP22基因重复突变的CMT1A型患者的原代成纤维细胞的转录特征差异超过90%。本实验整体设计为：比较CMT2A、CMT1A型患者与正常人类成纤维细胞之间的转录特征差异。