In this project, the researchers looked for the presence of the protein DUX4 in the immune system. There is evidence for the presence of the protein DUX4 in the thymus in both healthy individuals and in people with FSHD, but the exact properties of DUX4 in these organs are unknown. This organ plays an important role in the immune system. The DUX4 protein has not been found in other tissues of the immune system, possibly indicating a natural role of the protein in the thymus. “We found that the presence of this protein in the immune system does not always have consequences for the functioning of this system,” explains Dr. Jessica de Greef. “Now it is important to determine the exact role of DUX4 in the thymus and to further investigate whether more DUX4 protein is present in the thymus in FSHD patients.”
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