Gout & Genes

The Evolutionary Fate of the Genes Encoding the Purine Catabolic Enzymes in Hominoids, Birds, and Reptiles

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Humans are the only mammalian species to develop spontaneous Gout. The other hominids (higher primates) get it under experimental settings when they are force-fed high purine diets like fructose-laden ones, or uric acid itself. That’s because higher primates have mutated the gene encoding uricase beyond any functionality.

Birds and reptiles (possibly dinosaurs too) can also develop Gout, but rarely, and usually secondary to kidney failure preventing uric acid excretion.

Primary spontaneous Gout is a uniquely human experience!

Population-specific association between ABCG2 variants and tophaceous disease in people with gout

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Tophi contribute to musculoskeletal disability, joint…