The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London, WC1N 1EH, United Kingdom.
National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London WC1N 1EH, United Kingdom.
Epigenomics. 2020 Nov;12(21):1899-1915. doi: 10.2217/epi-2020-0052. Epub 2020 Nov 20.
To perform cross-sectional and longitudinal miRNA profiling in plasma from Duchenne muscular dystrophy (DMD) subjects and find non-invasive biomarkers in DMD. Plasma was collected from 14 age and sex matched controls and 46 DMD subjects. Free-circulating and extracellular vesicle (EV)-derived miRNA expression was measured by RT-qPCR. Free-circulating and EVs derived miR-29c-3p and miR-133a-3p are dysregulated in DMD subjects. Free-circulating and EV-derived miR-29c-3p are reduced in DMD subjects undergoing daily corticosteroid treatment. Free-circulating miR-1-3p and miR-122-5p are longitudinally upregulated in ambulant DMD subjects. We detected novel free-circulating and EV-derived dysregulated miRNAs in plasma from DMD subjects and characterized the longitudinal profile of free-circulating miRNA on plasma from DMD subjects.
对杜兴肌营养不良症(DMD)患者的血浆进行横断面和纵向 microRNA 分析,寻找 DMD 的非侵入性生物标志物。从 14 名年龄和性别匹配的对照者和 46 名 DMD 患者中采集血浆。通过 RT-qPCR 测量游离循环和细胞外囊泡(EV)衍生的 miRNA 表达。DMD 患者中游离循环和 EV 衍生的 miR-29c-3p 和 miR-133a-3p 失调。接受每日皮质类固醇治疗的 DMD 患者中游离循环的 miR-29c-3p 减少。能够长期移动的 DMD 患者的游离循环 miR-1-3p 和 miR-122-5p 呈纵向上调。我们在 DMD 患者的血浆中检测到了新型游离循环和 EV 衍生的失调 miRNA,并对 DMD 患者的血浆中游离循环 miRNA 的纵向特征进行了描述。