Journal article

Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy

Christopher R Heier, Aiping Zhang, Nhu Y Nguyen, Christopher B Tully, Aswini Panigrahi, Heather Gordish-Dressman, Sachchida Nand Pandey, Michela Guglieri, Monique M Ryan, Paula R Clemens, Mathula Thangarajh, Richard Webster, Edward C Smith, Anne M Connolly, Craig M McDonald, Peter Karachunski, Mar Tulinius, Amy Harper, Jean K Mah, Alyson A Fiorillo Show all



The development of therapeutics for muscle diseases such as facioscapulohumeral dystrophy (FSHD) is impeded by a lack of objective, minimally invasive biomarkers. Here we identify circulating miRNAs and proteins that are dysregulated in early-onset FSHD patients to develop blood-based molecular biomarkers. Plasma samples from clinically characterized individuals with early-onset FSHD provide a discovery group and are compared to healthy control volunteers. Low-density quantitative polymerase chain reaction (PCR)-based arrays identify 19 candidate miRNAs, while mass spectrometry proteomic analysis identifies 13 candidate proteins. Bioinformatic analysis of chromatin immunoprecipitation (ChIP)..

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Awarded by National Institutes of Health (NIH)

Awarded by NIH/NINDS

Awarded by NIH/NCATS

Funding Acknowledgements

This study is supported by funding from the Friends of FSH Research, the FSHD Society, Muscular Dystrophy Canada, and the FSHD Global Research Foundation. C.R.H. and this work is supported by the National Institutes of Health (NIH) grants R01HL153054, P50HD090254, and R00HL130035, as well as the Foundation to Eradicate Duchenne and the A. James & Alice B. Clark Foundation. Y.W.C. is partially supported by NIH/NINDS 1R03NS116444, Muscular Dystrophy Association and NIH/NCATS UL1TR001876.