The results, published in The Journal of Clinical Investigation, could help in the search for therapies to treat kidney disease group known as Glomeuropatía C3.
"The complement system is an important part of our innate immunity that has evolved to defend against pathogens, to remove damaged tissue debris and to amplify and modulate the responses of adaptive immunity. The alterations in the functioning of complement, by default or by excess, cause pathological conditions related to infection, autoimmunity, chronic inflammation or tissue damage, "said CSIC researcher Santiago Rodríguez de Córdoba, Biological Research Center.
The research part of the identification of a mutation in the gene CFHR1 in a Spanish family with several members affected by glomerular C3, a heterogeneous group of severe kidney disease caused by deregulation of the complement system and is characterized by inflammation and glomerular loss of renal function.
"In most cases it is not clear what causes this alteration of the complement system. This study shows how important it is to identify the mechanism for deciding which therapy to apply to the patient, "CSIC researcher adds.
The results could also help in the investigation of macular degeneration associated with age and IgA nephropathy, also frequent pathologies associated with dysregulation of the complement system.
The study, which also involved researchers from the Hospital Universitario La Paz, Hospital Virgen del Rocío, the Center for Biomedical Network Research on Rare Diseases, Cardiff University and Imperial College London, has been funded by the Ministry of Economy and Competitiveness, the Community of Madrid and Fundación Renal Iñigo Alvarez de Toledo.
Agustín Tortajada, Hugo Yébenes, Cynthia Abarrategui-Garrido, Jaouad Anter, Jesús M. García-Fernández, Rubén Martínez-Barricarte, María Alba-Domínguez, Talat H. Malik, Rafael Bedoya, Rocío Cabrera Pérez, Margarita López Trascasa, Matthew C. Pickering, Claire L. Harris, Pilar Sánchez-Corral, Oscar Llorca, and Santiago Rodríguez de Córdoba. C3 glomerulopathy–associated CFHR1 mutation alters FHR oligomerization and complement regulation. The Journal of Clinical Investigation. DOI: 10.1172/JCI68280.