Although we have known the genetic cause of Duchenne muscular dystrophy since 1986, our knowledge of the actual biology of the disease and its progression is still incomplete. This lack of understanding seriously compromises our efforts to find effective new treatments, as well as new diagnostic tests that can help patients and their caregivers manage disease progression.
This paper, the result of a focused collaboration between industry, advocacy and Duchenne patient advocates, describes the first truly large-scale, unbiased biomarker discovery in Duchenne patients vs. controls, using the SOMAscan assay.
A total of 44 proteins were identified, 24 of which are up and 20 that are down in Duchenne patients as compared to controls. Some of these were expected (and confirmatory of previous studies), but others were not, and suggest new approaches for diagnosis, prognosis and novel therapeutic discovery for this devastating disease.
Hathout Y et al. (2015) Large–scale biomarker discovery in Duchenne muscular dystrophy. Proc Natl Acad Sci USA Early edition (online only) on May 26, 2015. http://www.pnas.org/cgi/doi/10.1073/pnas.1507719112