Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Buerger, M.
Elucidating the consequences of loss of MMP-12 in lysosomal acid lipase deficiency
PhD-Studium (Doctor of Philosophy); Humanmedizin; [ Dissertation ] Medizinische Universität Graz; 2025. pp. 87
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- Autor*innen der Med Uni Graz:
- Betreuer*innen:
- Frank Sasa
- Kratky Dagmar
- Moustafa Tarek
- Altmetrics:
- Abstract:
- Background: Lysosomal acid lipase-deficiency (LAL-D) is a rare lysosomal storage disorder characterized by impaired degradation of cholesteryl esters and triglycerides, resulting in chronic inflammation and immune system dysfunction. Previous studies have demonstrated significantly elevated expression of Matrix Metalloproteinase-12 (MMP-12) in LAL-D mice (Lal KO), predominantly secreted by macrophages, and associated with severe inflammatory phenotypes. Furthermore, myeloid lineage-specific overexpression of MMP-12 resulted in lymphocyte dysfunction and systemic expansion of myeloid cells (CD11b+Gr-1+) similar to Lal KO mice. Therefore, we hypothesized that MMP-12 plays a substantial role in the immunopathology observed in LAL-D.