Progress Update: Omics Approach to Identifying Biomarkers

Supported by the Friends of FSH Research, we were able to develop and validate an improved experimental method to analyze protein profiles in blood samples from patients with early onset FSHD. In the study, we first used the method to validate a previous study and identified nine proteins that were consistently changed in FSHD blood samples. Three proteins that were higher in the FSHD samples are part of the fibrinogen protein, which is a marker of inflammation and tissue damages. Among the proteins that are lower in the FSHD samples, APOAII and IGFBP3 are proteins known change levels in response to different physical and muscle conditions. For fibrinogen and APOAII, we used a second method, ELISA assay, to validate the findings. We are currently analyzing the data.

In the second part of the study, we used the same method to examine the proteins in a larger number of FSHD samples (from 22 patients with early onset FSHD) and compared to data from 14 healthy individuals. We have completed initial analyses and identified 25 proteins that are significantly correlated with disease severity. In addition to APOAII, we identified several APO proteins that were different between the FSHD and control samples. In addition to differences between FSHD and control samples, we also identified proteins of which the levels correlated with disease severity. One of the proteins, called β-defensin-3, was shown correlated with myofiber degeneration in an autoimmune muscle inflammatory disease. Currently, we are analyzing both the proteomics and ELISA data generated, accounting for differences in age and gender. We will also use other clinical measurements for data analyses after the initial analyses. We thank the support from the Friends of FSH Research Foundation, which allow us to conduct the study.

See grant Identify Biomarkers for FSHD Using Omics Approaches