Interleukin 1 beta levels were significantly different in male FSHD patients

Abstract

In FSHD, DUX4 toxicity leads to cell death. Cell death is known to initiate a process called sterile inflammation through IL1 family, which includes IL-1β. Serum biomarker studies in the field have shown that there is a significant increase in IL-6 and TNF-alpha levels of FSHD patients compared to healthy controls. In this pilot study, we wanted to investigate whether inflammatory changes were present in our own patient group. For this purpose, we measured IL-1β, IL-6 and TNF-alpha levels in eight male patients and eight age-matched healthy controls. The serum levels of Interleukin IL-1β, IL-6 and TNF-α were quantified using a Simple-Plex cartridge for ELLA Automated Immunoassay System Instrument. As a result, we found that all of the parameters, IL-1β, IL-6 and TNF-alpha exhibited higher levels in FSHD group. However, of those, IL-1β was the only parameter that was significantly higher in FSHD patients compared to controls (p=0.012), while IL-6 and TNF-alpha were not significantly different. What we found was the high interindividual variation of IL-1β and IL-6. The small number of participants in the pilot study might be a limitation or geographic heterogeneity may be a contributing factor to this variability. It is noteworthy that the significant difference of IL-1β levels, an interleukin that is specifically associated with sterile cell death, was detected even in our pilot group. Based on this significance, we suggest that IL-1β may provide important clues regarding pathophysiology.