Macular degeneration proteins pinpointed

Researchers have found a set of five proteins which are linked to age-related macular degeneration, it has been announced.

The condition has a strong genetic link, affecting an area called the complement factor H locus which regulates a number of proteins.

Dr Richard Unwin at the University of Manchester, UK, and colleagues examined gene variants previously linked to age-related macular degeneration at this locus.

They measured circulating levels of the proteins FHR-1 to FHR-5 and found raised levels in samples from 352 patients with advanced disease, compared to 252 people without the condition.

The study appeared in American Journal of Human Genetics. The authors conclude: "These findings provide a strong biochemical explanation for how genetically driven alterations in circulating factor H related proteins could be major drivers of age-related macular degeneration and highlight the need for research into factor H related protein modulation as a viable therapeutic avenue for age-related macular degeneration."

Dr Unwin said: “This is a hugely important study for people with age-related macular degeneration. Measuring the levels of these proteins has been a big challenge over the last few years and is technically quite challenging as they are present at low levels in the blood and are very similar to each other.

“By using state-of-the-art mass spectrometry methods, we can now confidently measure these proteins and show for the first time what is an important, if not the most important, factor in how age-related macular degeneration develops.

“This opens up whole new areas for improving patient care, through the development of new treatments targeted at these proteins or in simply monitoring levels to discover who has higher levels of complement activation and as such will benefit from complement-modifying treatments."

Cipriani, V. et al. Beyond Factor H: the impact of genetic risk variants for age-related macular degeneration on circulating Factor H-Like 1 and Factor H-Related protein levels. American Journal of Human Genetics 13 July 2021


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