What Happens When the Alternative Pathway Malfunctions?
Malfunctions in the alternative pathway can lead to several diseases:
Atypical Hemolytic Uremic Syndrome (aHUS): Caused by mutations in regulatory proteins like Factor H or MCP, leading to uncontrolled complement activation. Age-related Macular Degeneration (AMD): Linked to polymorphisms in the Factor H gene, contributing to chronic inflammation and tissue damage in the retina. Paroxysmal Nocturnal Hemoglobinuria (PNH): Caused by mutations affecting the synthesis of GPI-anchored proteins, leading to increased complement-mediated lysis of red blood cells.
