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July 17th, 2025
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University of Notre Dame
neuroscience
biorxiv

Variants in glycine decarboxylase activate mechanisms of mitochondrial energy metabolism in the brain.

Haldar, K.Open in Google Scholar•Lopez-Ramirez, A.Open in Google Scholar•Worth, A.Open in Google Scholar•Wang, Z.Open in Google Scholar•Yilmaz, S.Open in Google Scholar•Hayes, S.Open in Google Scholar•Farris, J.Open in Google Scholar•Alam, M. S.Open in Google Scholar•Padmanabhan, P.Open in Google Scholar

Brain energy metabolism is produced from glucose by mitochondrial oxidative phosphorylation. Variants in the mitochondrial enzyme glycine decarboxylase (GLDC) cause a rare neurological disease, non-ketotic hyperglycinemia (NKH), with expected hallmarks of brain glycine elevation and responsiveness to folate deficiency that are equivalent to the severity of Gldc mutations. We remarkably find that brains of young-attenuated mutant mice with a 1.5-fold increase in glycine are reduced [gt] 5-fold in GLDC, show a decline in both the mitochondrial lipoyl-transfer protein GCSH and lipoylation of the pyruvate dehydrogenase (PDH) complex, as well as concomitant rise in signatures of astrocyte mitochondrial b-oxidation of fatty acids and activation of neuronal PDH. Our findings suggest a novel GLDC mechanism of remodeling mitochondrial energy systems throughout the brain, established early in and sustained throughout post-natal NKH disease.

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