Center for Molecular and Biomolecular Informatics (CMBI), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.
Department of Cognitive Neuroscience, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, 6525 EN Nijmegen, The Netherlands.
Int J Mol Sci. 2022 Mar 12;23(6):3081. doi: 10.3390/ijms23063081.
The blood transcriptome was examined in relation to disease severity in type I myotonic dystrophy (DM1) patients who participated in the Observational Prolonged Trial In DM1 to Improve QoL- Standards (OPTIMISTIC) study. This sought to (a) ascertain if transcriptome changes were associated with increasing disease severity, as measured by the muscle impairment rating scale (MIRS), and (b) establish if these changes in mRNA expression and associated biological pathways were also observed in the Dystrophia Myotonica Biomarker Discovery Initiative (DMBDI) microarray dataset in blood (with equivalent MIRS/DMPK repeat length). The changes in gene expression were compared using a number of complementary pathways, gene ontology and upstream regulator analyses, which suggested that symptom severity in DM1 was linked to transcriptomic alterations in innate and adaptive immunity associated with muscle-wasting. Future studies should explore the role of immunity in DM1 in more detail to assess its relevance to DM1.
我们研究了 1 型肌强直性营养不良（DM1）患者的血液转录组与疾病严重程度的关系，这些患者参与了旨在提高生活质量的 DM1 长期观察性试验-标准（OPTIMISTIC）研究。该研究旨在：（a）确定转录组变化是否与肌肉损伤评分量表（MIRS）评估的疾病严重程度增加有关；（b）确定这些在 DMBDI 微阵列数据集（具有等效 MIRS/DMPK 重复长度）中观察到的 mRNA 表达和相关生物学途径的变化是否也存在于血液中。通过使用多种互补途径、基因本体和上游调节剂分析来比较基因表达的变化，这表明 DM1 的症状严重程度与与肌肉消耗相关的固有和适应性免疫的转录组改变有关。未来的研究应更详细地探讨免疫在 DM1 中的作用，以评估其与 DM1 的相关性。
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