Posted by Friends of FSH Research on Nov 8, 2024
Report by Dr. Nunes
See also The role of macrophages in Facioscapulohumeral muscular dystrophy
Chronic inflammation is a well-documented hallmark in FSHD patient muscles. However, the role of the immune system in FSHD is still unknown. This proposal aims to characterize macrophage hyperresponsiveness in FSHD. For this, I am using the FLExDUX4 minipig with tamoxifen-inducible expression of DUX4 in skeletal muscles that, when expressed, recapitulates many key histological aspects of the human disease such as increased number of damaged/regenerated fibers, immune infiltration, fibrotic tissue accumulation, and fat infiltration. Even though the minipig is a useful model to study FSHD, the tools and protocols are limited for this animal model.
During the 6 months of funding, I optimized the protocol conditions for the single-cell isolation and flow cytometry analysis of monocytes and macrophages from minipig blood and skeletal muscle biopsies, respectively. I also analyzed the immune cell infiltration in the skeletal muscle of FSHD-like minipigs by histological staining. I am working on further protocol optimization for gene expression analysis of blood- and muscle-isolated monocytes and macrophages. The data produced in the first funding cycle of this grant will be critical for the following sample collection and analysis that will start shortly in the second 6-month project cycle.
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