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首页> 外文期刊>Orphanet journal of rare diseases >CMTX1 patients’ cells present genomic instability corrected by CamKII inhibitors
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CMTX1 patients’ cells present genomic instability corrected by CamKII inhibitors

机译：CMTX1患者的细胞呈现通过CamKII抑制剂纠正的基因组不稳定

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Background We previously described that fibroblasts from animal models of CMTX1 present genomic instability and poor connexon activity. In vivo, these transgenic mice present motor deficits. This phenotype could be significantly reverted by treatment with (CamKII) inhibitors. The objective of this study is to translate our findings to patients. Methods We cultured fibroblasts from skin biopsies of CMTX1 patients and analyzed cells for genomic instabilty, connexon activity, and potential correction by CamKII inhibitors. Results The phenotypic analysis of these cells confirmed strong similarities between the GJB1 transgenic mouse cell lines and CMTX1 patient fibroblast cell lines. Both present mitotic anomalies, centrosome overduplication, and connexon activity deficit. This phenotype is corrected by CamKII inhibitors. Conclusions Our data demonstrate that fibroblasts from CMTX1 patients present a phenotype similar to transgenic lines that can be corrected by CamKII inhibitors. This presents a track to develop therapeutic strategies for CMTX1 treatment.
机译：背景我们之前曾描述过，来自CMTX1动物模型的成纤维细胞呈现基因组不稳定和不良的连接子活性。在体内，这些转基因小鼠表现出运动缺陷。通过使用（CamKII）抑制剂治疗可以显着恢复该表型。这项研究的目的是将我们的发现转化为患者。方法我们从CMTX1患者的皮肤活检物中培养了成纤维细胞，并分析了细胞的基因组不稳定，连接子活性以及通过CamKII抑制剂进行的潜在纠正。结果这些细胞的表型分析证实了GJB1转基因小鼠细胞系和CMTX1患者成纤维细胞系之间的强相似性。两者都呈现有丝分裂异常，中心体重复过度和连接子活性不足。该表型被CamKII抑制剂纠正。结论我们的数据表明，来自CMTX1患者的成纤维细胞表现出与可被CamKII抑制剂纠正的转基因系相似的表型。这提供了开发用于CMTX1治疗的治疗策略的途径。

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