Figures & data
Table 1. List of DMD biomarkers identified. The biomarkers are ranked based on the number of publications providing evidence for association of the biomarker with DMD. Biomarkers identified in both human and animal models are listed first, followed by biomarkers identified only in DMD patients and subsequently in only DMD animal models.
Hathout Y, Marathi RL, Rayavarapu S, et al. Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne Muscular Dystrophy patients. Hum Mol Genet. 2014;23(24):6458–6469. Yasmineh WG, Ibrahim GA, Abbasnezhad M, et al. Isoenzyme distribution of creatine kinase and lactate dehydrogenase in serum and skeletal muscle in Duchenne Muscular Dystrophy, collagen disease, and other muscular disorders. Clin Chem. 1978;24(11):1985–1989. Nakamura A, Kobayashi M, Kuraoka M, et al. Initial pulmonary respiration causes massive diaphragm damage and hyper-CKemia in Duchenne Muscular Dystrophy dog. Sci Rep. 2013;3(1):359. Murphy S, Dowling P, Zweyer M, et al. Proteomic profiling of mdx-4cv serum reveals highly elevated levels of the inflammation-induced plasma marker haptoglobin in muscular dystrophy. Int J Mol Med. 2017;39(6):1357–1370. Mokuno K, Riku S, Sugimura K, et al. Serum creatine kinase isoenzymes in Duchenne Muscular Dystrophy determined by sensitive enzyme immunoassay methods. Muscle Nerve. 1987;10(5):459–463. Kobayashi YM, Rader EP, Crawford RW, et al. Endpoint measures in the mdx mouse relevant for muscular dystrophy pre-clinical studies. Neuromuscul Disord. 2012;22(1):34–42. Ayoglu B, Chaouch A, Lochmüller H, et al. Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies. EMBO Mol Med. 2014;6(7):918–936. Rouillon J, Poupiot J, Zocevic A, et al. molecular FAH, 2015. Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies. Hum Mol Genet. 2015;24(17):4916–4932. Hathout Y, Brody E, Clemens PR, et al. Large-scale serum protein biomarker discovery in Duchenne Muscular Dystrophy. Proc Natl Acad Sci USA. 2015;112(23):7153–7158. Hathout Y, Liang C, Ogundele M, et al. Disease-specific and glucocorticoid-responsive serum biomarkers for Duchenne Muscular Dystrophy. Sci Rep. 2019;9(1):12167. Parolo S, Marchetti L, Lauria M, et al. Combined use of protein biomarkers and network analysis unveils deregulated regulatory circuits in Duchenne Muscular Dystrophy. PLoS ONE. 2018;13(3):e0194225. Spitali P, Hettne K, Tsonaka R, et al. Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies. J Cachexia, Sarcopenia Muscle. 2018;80(4):706–726. Strandberg K, Ayoglu B, Roos A, et al. Blood-derived biomarkers correlate with clinical progression in Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2020;7(3). Voleti S, Olivieri L, Hamann K, et al. Troponin I Levels Correlate With Cardiac MR LGE and Native T1 Values in Duchenne Muscular Dystrophy Cardiomyopathy and Identify Early Disease Progression. Pediatr Cardiol. 2020;10.1007/s00246-020-02372-5. Burch PM, Pogoryelova O, Goldstein R, et al. Muscle-derived proteins as serum biomarkers for monitoring disease progression in three forms of muscular dystrophy. J Neuromuscul Dis. 2015;2(3):241–255. Kiessling WR, Beckmann R. Serum levels of myoglobin and creatine kinase in Duchenne Muscular Dystrophy. Klin Wochenschr. 1981;59(7):347–348. Coenen-Stass AML, McClorey G, Manzano R, et al. Identification of novel, therapy-responsive protein biomarkers in a mouse model of Duchenne Muscular Dystrophy by aptamer-based serum proteomics. Sci Rep. 2015;5(1):e38–11. Sun G, Haginoya K, Chiba Y, et al. Elevated plasma levels of tissue inhibitors of metalloproteinase-1 and their overexpression in muscle in human and mouse muscular dystrophy. J Neurol Sci. 2010;297(1–2):19–28. Burch PM, Pogoryelova O, Palandra J, et al. Reduced serum myostatin concentrations associated with genetic muscle disease progression. J Neurol. 2017;264(3):541–553. Guiraud S, Edwards B, Squire SE, et al. Identification of serum protein biomarkers for utrophin based DMD therapy. Sci Rep. 2017;7:43697. John HA, Purdom IF. Elevated plasma levels of haptoglobin in Duchenne Muscular Dystrophy: electrophoretic variants in patients with a severe form of the disease. Electrophoresis. 1989;10(7):489–493. Flanigan KM, Voit T, Rosales XQ, et al. Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne Muscular Dystrophy: results of a double-blind randomized clinical trial. Neuromuscul Disord. 2014;24(1):16–24. Colussi CC, Banfi CC, Brioschi MM, et al. Proteomic profile of differentially expressed plasma proteins from dystrophic mice and following suberoylanilide hydroxamic acid treatment. Proteomics Clin Appl. 2009;4(1):71–83. Signorelli M, Ayoglu B, Johansson C, et al. Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne Muscular Dystrophy. J Cachexia, Sarcopenia Muscle. 2019;87:149. Zelikovich AS, Quattrocelli M, Salamone IM, et al. Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy. Sci Rep. 2019;9(1):281. Oonk S, Spitali P, Hiller M, et al. Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne Muscular Dystrophy patients. Proteomics Clin Appl. 2015;10(3):290–299. Cruz-Guzmán ODR, Rodríguez-Cruz M, Escobar-Cedillo RE. Systemic inflammation in Duchenne Muscular Dystrophy: association with muscle function and nutritional status. Biomed Res Int. 2015;2015(3):891972–891977. de Carvalho SC, Matsumura CY, Santo Neto H, et al. Identification of plasma interleukins as biomarkers for deflazacort and omega-3 based Duchenne Muscular Dystrophy therapy. Cytokine. 2018;102:55–61. Nadarajah VD, van Putten M, Chaouch A, et al. Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne Muscular Dystrophy (DMD). Neuromuscul Disord. 2011;21(8):569–578. Cynthia Martin F, Hiller M, Spitali P, et al. Fibronectin is a serum biomarker for Duchenne Muscular Dystrophy. Proteomics Clin Appl. 2014;8(3–4):269–278. Crowe KE, Shao G, Flanigan KM, et al. N-terminal α dystroglycan (αDG-N): a potential serum biomarker for Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2016;3(2):247–260. Anderson J, Seol H, Gordish-Dressman H, et al. Interleukin 1 receptor-like 1 protein (ST2) is a potential biomarker for cardiomyopathy in Duchenne Muscular Dystrophy. Pediatr Cardiol. 2017;38(8):1606–1612. Lourbakos A, Yau N, de Bruijn P, et al. Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne. Sci Rep. 2017;7(1):17888. Alagaratnam S, Mertens BJA, Dalebout JC, et al. Serum protein profiling in mice: identification of Factor XIIIa as a potential biomarker for muscular dystrophy. Proteomics. 2008;8(8):1552–1563. Saito K, Koboyashi D, Komatsu M et al. A sensitive assay of tumor necrosis factor a in sera from Duchenne muscular dystrophy patients. Clin Chem 2000;46(10):1703e4