Epigenomics and muscular dystrophy

面肩臂肌营养不良症(FSHD)是由染色体4q35上3.3kb的D4Z4重复序列截断引起的，被认为与表观基因组学变化密切相关。在这项研究中，我们使用高密度甲基化阵列进行了全基因组甲基化研究，但在患者和他们的健康父母之间没有发现特异性的变化。接下来，我们对FSHD的疾病相关基因组区域进行了特异性甲基化研究。我们发现临床严重程度与DNA甲基化呈负相关。这种受影响的染色体特异性分析有助于阐明FSHD的发病机制。

Facioscapulohumeral muscular dystrophy (FSHD) is caused by truncation of 3.3-kb D4Z4 repeats on the chromosome 4q35, which is thought to have close association with epigenomic changes. In this study, we performed genome-wide methylation study by using high dense methylation array, but no specific changes were found between the patients and their healthy parents. Next, we performed specific methylation study of the disease associated genomic region of FSHD. We found negative correlation between clinical severity and DNA methylation. This affected chromosome-specific analysis is useful to elucidate pathogenesis of FSHD.