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Subspecialties Retina, Basic & Translational Research

Telling the MacTel Tale

WEHI researchers identified genetic differences in MacTel patients that affect the structure of blood vessels in the retina (pictured), and the production and delivery of critical amino acids to this tissue. Credit: WEHI.

MacTel, a degenerative retinal disorder caused by slight changes to fundamental amino acid levels in a person’s blood, is notoriously difficult to diagnose. Now, scientists at WEHI, University of Melbourne, Australia, have discovered that a rare DNA mutation in the PHGDH gene increases the risk of developing MacTel five-fold. In a study looking at 1,067 MacTel sufferers and 3,799 controls, researchers also identified seven other regions in the human genome responsible for increased risk of developing the disorder. With this knowledge, genetically predisposed individuals may now be identified early and offered them the best treatment options, potentially saving their vision. The team is now working on identifying other genes responsible for MacTel development.

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  1. R Bonelli et al., Commun Biol, 4, 274 (2021). PMID: 33654266.
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