Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy

Yetrib Hathout, Edward Brody, Paula R. Clemens, Linda Cripe, Robert Kirk DeLisle, Pat Furlong, Heather Gordish-Dressman, Lauren Hache, Erik K Henricson, Eric P. Hoffman, Yvonne Monique Kobayashi, Angela Lorts, Jean K. Mah, Craig M McDonald, Bob Mehler, Sally Nelson, Malti Nikrad, Britta Singer, Fintan Steele, David SterlingH. Lee Sweeney, Steve Williams, Larry Gold

Research output: Contribution to journalArticlepeer-review

149 Scopus citations


Serum biomarkers in Duchenne muscular dystrophy (DMD) may provide deeper insights into disease pathogenesis, suggest new therapeutic approaches, serve as acute read-outs of drug effects, and be useful as surrogate outcome measures to predict later clinical benefit. In this study a large-scale biomarker discovery was performed on serum samples from patients with DMD and agematched healthy volunteers using a modified aptamer-based proteomics technology. Levels of 1,125 proteins were quantified in serum samples from two independent DMD cohorts: cohort 1 (The Parent Project Muscular Dystrophy-Cincinnati Children's Hospital Medical Center), 42 patients with DMD and 28 age-matched normal volunteers; and cohort 2 (The Cooperative International Neuromuscular Research Group, Duchenne Natural History Study), 51 patients with DMD and 17 age-matched normal volunteers. Forty-four proteins showed significant differences that were consistent in both cohorts when comparing DMD patients and healthy volunteers at a 1% false-discovery rate, a large number of significant protein changes for such a small study. These biomarkers can be classified by known cellular processes and by age-dependent changes in protein concentration. Our findings demonstrate both the utility of this unbiased biomarker discovery approach and suggest potential new diagnostic and therapeutic avenues for ameliorating the burden of DMD and, we hope, other rare and devastating diseases.

Original languageEnglish (US)
Pages (from-to)7153-7158
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number23
StatePublished - Jun 9 2015


  • Biomarkers
  • Muscular dystrophy
  • Proteomics
  • SOMAmer
  • SOMAscan

ASJC Scopus subject areas

  • General


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