The most prevalent form of adult blindness is most likely caused by a failure of at least one of five proteins that regulate the immune system, according to a team of scientists from the University of Manchester.
The finding might pave the way for groundbreaking therapies for age-related macular degeneration (AMD), which affects 600,000 individuals in the United Kingdom alone.
The study was published in the American Journal of Human Genetics and was funded by the Medical Research Council and a partnership between scientists in Manchester, London, and Tübingen, Germany.
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Inflammation in the rear of the eye has long been linked to AMD.
Previous study identified a set of genes considered to control the complement system, a crucial component in our immunological response against infections, as potential risk factors for the illness.
The function of these genes, Complement Factor H (CFH) and Complement Factor H-Related 1 to 5 (CFHR-1 to CFHR-5), was unknown until recently.
However, using mass spectrometry to examine the amounts of these genes’ products—FH and FHR-1 through FHR-5 proteins—in 604 blood plasma samples, the researchers were able to establish for the first time that all five FHR proteins are at higher levels in persons with AMD than in those without.
The complement pathway, which is part of the innate immune system, provides our first line of defence against infections, designating injured cells for death and attracting and activating other immune cells.
A dysfunctional complement pathway in the back of the eye causes a harmful inflammation response in AMD.
Dr. Richard Unwin from The University of Manchester’s Stoller Biomarker Discovery Center said:
AMD damages the back of the eye, creating deposits, which leads to two types of AMD: moist and dry AMD. Early intervention, however, may be able to halt its spread.
Dr Valentina Cipriani, a Lecturer in Statistical Genomics at Queen Mary University of London who led the data analysis said:
Prof Simon Clark, Helmut Ecker Endowed Professor of AMD at Eberhard Karls University of Tübingen who co-supervised the work said:
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