Understanding the role of factor H related proteins in Age-Related Macular Degeneration

Proteins from the factor H family, integral to the complement system, play a crucial role in regulating the immune response, ensuring it does not become overactive and cause self-damage. These proteins are linked to age-related macular degeneration (AMD), a leading cause of blindness in older adults.

Researchers at Sanquin have explored the relationship between the concentrations of factor H proteins and various genetic variations. PhD student Bert Veuskens focused on identifying a healthy balance of these proteins. By analyzing the genetic variations and protein concentrations in nearly 200 healthy individuals, he established baseline values that can help detect deviations linked to disease.

This research is ideally suited to Sanquin, leveraging our unique access to a healthy donor population to determine normal values. These findings can enhance diagnostics, prognosis, and targeted treatments for AMD, benefiting a significant portion of the population.

Bert's research, conducted under the guidance of Richard Pouw, was supported by a grant from the Sanquin Research Fund. This complement research is part of the SciFiMed project, a European collaboration funded by the EU, and has been recently published.

Read the recent publications:

"Development and characterization of novel ELISAs for the specific quantification of factor H-related proteins 2, 3, 4, and 5"
Published in the Journal of Innate Immunity, this breakthrough paper details the development of highly specific ELISA assays essential for accurate and robust quantification of multiple FHR proteins in human blood. 

"Factor H-related 2 levels dictate FHR dimer composition"
Published in Scientific Reports, this study reveals how FHR-2 protein levels control the formation and distribution of FHR dimers, significantly impacting complement regulation and associated diseases.

"Common haplotypes within the chromosome 1q31.3 region determine systemic concentrations of the entire complement factor H protein family"
Also published in the Journal of Innate Immunity, this paper demonstrates how genetic variations affect the levels and ratios of the FH protein family, paving the way for personalized approaches to disease management.