Article
Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation.
The Journal of clinical investigation - 1 Oct 2010
Martínez-Barricarte Rubén, Heurich Meike, Valdes-Cañedo Francisco, Vazquez-Martul Eduardo, Torreira Eva, Montes Tamara, Tortajada Agustín, Pinto Sheila, Lopez-Trascasa Margarita, Morgan B Paul, Llorca Oscar, Harris Claire L, Rodríguez de Córdoba Santiago
Abstract excerpt
Dense deposit disease (DDD) is a severe renal disease characterized by accumulation of electron-dense material in the mesangium and glomerular basement membrane. Previously, DDD has been associated with deficiency of factor H (fH), a plasma regulator of the alternative pathway (AP) of complement activation, and studies in animal models have linked pathogenesis to the massive complement factor 3 (C3) activation...
Topics
- Adult
- Complement Activation
- Complement C3
- Complement C3-C5 Convertases
- Complement C3b
- Complement Factor H
- Female
- Glomerulonephritis, Membranoproliferative
- Humans
- Male
- Middle Aged
- Mutation