06-11-2025
The thesis, entitled “The Crosstalk Between Inflammatory Conditions and Glycosylation in Rare Diseases of Glycosylation,” was developed within the Glycoimmunology Lab at the Department of Life Sciences, NOVA School of Science and Technology.
The student´s research focused on the pathophysiological mechanisms of PMM2-CDG, a congenital disorder of glycosylation caused by mutations in the PMM2 enzyme, which is essential for proper N-glycosylation. Patients with this condition often present multisystemic involvement and are particularly vulnerable to recurrent infections during infancy, which can be life-threatening.
The thesis explored two key aspects:
i) The therapeutic potential of pharmacological chaperones to enhance PMM2 activity
ii) The impact of defective glycosylation on immune regulation.
Ana’s work was instrumental in demonstrating that blood samples from PMM2-CDG patients showed decreased expression of the immune checkpoint PD-L1, indicating a dysregulated immune response that may contribute to the severity and recurrence of infections in these patients.
Overall, this study provides valuable insights into the molecular and immunological mechanisms of PMM2-CDG and opens promising avenues for the development of targeted therapies.
Congratulations, Ana!
