Beyond Ornithine Metabolism in Gyrate Atrophy: Tissue-Specific Proteomic Insights into Neonatal and Adult OAT Deficiency.

ABSTRACT: Ornithine aminotransferase (OAT) links the urea and TCA cycles by interconverting ornithine to pyrroline-5-carboxylate. Despite its abundance in the liver, OAT mutations primarily cause gyrate atrophy (GA) and blindness. Paradoxically, adult GA patients have hyperornithinemia that is managed by arginine-restricted diet, while neonates experience hypoornithinemia and require arginine supplementation to prevent mortality in animal models. To understand this biochemical paradox, we performed a comprehensive proteomic analysis of the liver, retina, and retinal pigment epithelium and choroid (RPE/Cho) in neonatal and adult Oat ^rhg mice, a whole-body OAT-deficient model. We found that the number of significantly altered proteins ranged from 5 to 254 across tissues and ag

SUBMITTER: Puja A 

PROVIDER: S-EPMC12458369 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature