Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy

被引：6

作者：

Catapano, Francesco ^{[1
]}

Scaglioni, Dominic ^{[1
]}

Maresh, Kate ^{[1
]}

Ala, Pierpaolo ^{[1
]}

Domingos, Joana ^{[1
]}

Selby, Victoria ^{[1
]}

Ricotti, Valeria ^{[2
]}

Phillips, Lauren ^{[3
]}

Servais, Laurent ^{[4
,5
]}

Seferian, Andreea ^{[4
]}

de Groot, Imelda ^{[6
]}

Krom, Yvonne D. ^{[7
,8
]}

Voit, Thomas ^{[2
]}

Verschuuren, J. J. G. M. ^{[7
,8
]}

Niks, E. H. ^{[7
,8
]}

Straub, Volker ^{[9
]}

Morgan, Jennifer ^{[1
,2
]}

Muntoni, Francesco ^{[1
,2
]}

机构：

[1] UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, 30 Guildford St, London WC1N 1EH, England

[2] UCL, Natl Inst Hlth Res, Great Ormond St Inst Child Hlth, Biomed Res Ctr, London WC1N 1EH, England

[3] Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, MRC Ctr Neuromuscular Dis, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England

[4] Hop Armand Trousseau, Inst I Mot, Paris, France

[5] CHU Liege, Ctr Reference Malad Neuromusculaires, Liege, Belgium

[6] Radboud Univ Nijmegen, Amalia Childrens Hosp, Dept Rehabil, Med Ctr, Nijmegen, Netherlands

[7] Leiden Univ, Dept Neurol, Med Ctr, Leiden, Netherlands

[8] Duchenne Ctr Netherlands, Leiden, Netherlands

[9] Newcastle Upon Tyne Hosp NHS Fdn Trust, Int Ctr Life, Inst Human Genet, Northern Genet Serv, Cent Pkwy, Newcastle Upon Tyne, Tyne & Wear, England

来源：

EPIGENOMICS | 2020年 / 12卷 / 21期

关键词：

biomarkers; corticosteroids; Duchenne muscular dystrophy; extracellular vesicles; microRNAs; plasma; DISEASE PROGRESSION; CREATINE-KINASE; DOWN-REGULATION; SKELETAL; MICRORNAS; EXPRESSION; BIOMARKERS; FIBROSIS; IDENTIFICATION; PROLIFERATION;

D O I：

10.2217/epi-2020-0052

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Aim: To perform cross-sectional and longitudinal miRNA profiling in plasma from Duchenne muscular dystrophy (DMD) subjects and find non-invasive biomarkers in DMD. Subjects/materials & methods: 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. Results: 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. Conclusion: 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.

引用

页码：1899 / 1915

页数：17

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