ArticleBlood2024
Genetic regulation of carnitine metabolism controls lipid damage repair and aging RBC hemolysis in vivo and in vitro.
Article in Blood, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 44 citations in OpenAlex.
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- Genetic architecture of the murine serum metabolome reveals carboxyl esterases as master regulators of circulating fatty acid metabolism.bioRxiv : the preprint server for biology · 2026Article
- Article
- Improved red blood cell storage quality of blood from donors carrying the hypermorphic PIMT I120 variant.HemaSphere · 2026Article
- Lower efficacy of transfusion of red blood cells from donors with sickle cell trait.HemaSphere · 2026Article
- Inosine promotes erythrocyte metabolic reprogramming and restores oxygen release for rejuvenation via 2,3-BPG-PNP axis.Cell discovery · 2026Article
- Genetic architecture of the murine red blood cell proteome reveals central role of hemoglobin beta cysteine 93 in maintaining redox balance.Cell genomics · 2026Article
- Red blood cells serve as a primary glucose sink to improve glucose tolerance at altitude.Cell metabolism · 2026Article
- Caffeine impairs red blood cell storage quality by dual inhibition of ADORA2b signaling and G6PD activity.Haematologica · 2026Article
- Longitudinal metabolomics study of phosphate-adenine-guanosine-glucose-saline-mannitol stored red blood cells.Transfusion · 2026Article
- Fifteen years of the Diversity Outbred mouse model: a review.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Short- and long-term effects of transfusion in β-thalassemia: a longitudinal study of transfusion efficiency factors.Blood advances · 2026Article
- Surface acoustic wave hemolysis assay for evaluating stored red blood cells.Lab on a chip · 2026Article
- HypomorphicHemaSphere · 2026Article
- Quantitative comparison of whole blood, plasma and serum metabolomes across different blood collection methods.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Supercooled storage of red blood cells slows down the metabolic storage lesion.Scientific reports · 2025Article
- From metabolomics to transfusion-associated immunomodulation.Current opinion in immunology · 2025Review
- Altered branched chain ketoacids underlie shared metabolic phenotypes in type 1 diabetes and maple syrup urine disease.Communications medicine · 2025Article
- Cellular and biochemical heterogeneity contributes to the phenotypic diversity of transfusion-dependent β-thalassemia.Blood advances · 2025Article
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24 authors at 11 institutions in 4 countries.
Funding
Abstract
abstractRecent large-scale multiomics studies suggest that genetic factors influence the chemical individuality of donated blood. To examine this concept, we performed metabolomics analyses of 643 blood units from volunteers who donated units of packed red blood cells (RBCs) on 2 separate occasions. These analyses identified carnitine metabolism as the most reproducible pathway across multiple donations from the same donor. We also measured l-carnitine and acyl-carnitines in 13 091 packed RBC units from donors in the Recipient Epidemiology and Donor Evaluation study. Genome-wide association studies against 879 000 polymorphisms identified critical genetic factors contributing to interdonor heterogeneity in end-of-storage carnitine levels, including common nonsynonymous polymorphisms in genes encoding carnitine transporters (SLC22A16, SLC22A5, and SLC16A9); carnitine synthesis (FLVCR1 and MTDH) and metabolism (CPT1A, CPT2, CRAT, and ACSS2), and carnitine-dependent repair of lipids oxidized by ALOX5. Significant associations between genetic polymorphisms on SLC22 transporters and carnitine pools in stored RBCs were validated in 525 Diversity Outbred mice. Donors carrying 2 alleles of the rs12210538 SLC22A16 single-nucleotide polymorphism exhibited the lowest l-carnitine levels, significant elevations of in vitro hemolysis, and the highest degree of vesiculation, accompanied by increases in lipid peroxidation markers. Separation of RBCs by age, via in vivo biotinylation in mice, and Percoll density gradients of human RBCs, showed age-dependent depletions of l-carnitine and acyl-carnitine pools, accompanied by progressive failure of the reacylation process after chemically induced membrane lipid damage. Supplementation of stored murine RBCs with l-carnitine boosted posttransfusion recovery, suggesting this could represent a viable strategy to improve RBC storage quality.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.