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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.
Mol Med
January 2025
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Background: Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric protein intolerance involves a low-protein diet and citrulline supplementation. While this approach partially improves cationic amino acid plasma levels and alleviates some symptoms, long-term treatment is suggested to be detrimental and may lead to life-threatening complications characterized by a wide range of hematological and immunological abnormalities.
View Article and Find Full Text PDFArginine and colorectal cancer: Exploring arginine-related therapeutic strategies and novel insights into cancer immunotherapies.
Int Immunopharmacol
January 2025
Department of Colorectal Surgery, Xinchang People's Hospital, Affiliated Xinchang Hospital, Wenzhou Medical University, Xinchang, Zhejiang 312500, China. Electronic address:
Concerning the progression of societies and the evolution of lifestyle and dietary habits, the potential for the development of human malignancies, particularly colorectal cancer (CRC), has markedly escalated, positioning it as one of the most prevalent and lethal forms of cancer globally. Empirical evidence indicates that the metabolic processes of cancerous and healthy cells can significantly impact immune responses and the fate of tumors. Arginine, a multifaceted amino acid, assumes a crucial and paradoxical role in various metabolic pathways, as certain tumors exhibit arginine auxotrophy while others do not.
View Article and Find Full Text PDFUpregulation of interferon-γ response genes in monocytes and T cells identified by single-cell transcriptomics in patients with anti-citrullinated peptide antibody-positive early rheumatoid arthritis.
Front Immunol
January 2025
The Catholic University of Korea and Ho-Youn Kim's Clinic for Arthritis Rheumatism, Seoul, Republic of Korea.
Introduction: Our aim was to investigate the insufficiently understood differences in the immune system between anti-citrullinated peptide antibody (ACPA)-positive (ACPA) and ACPA-negative (ACPA) early rheumatoid arthritis (eRA) patients.
Methods: We performed multiple cytokine assays using sera from drug-naïve ACPA and ACPA eRA patients. Additionally, we conducted single-cell RNA sequencing of CD45 cells from peripheral blood samples to analyze and compare the distribution and functional characteristics of the cell subsets based on the ACPA status.
Development and internal validation of a metabolism-related model for predicting 30-day mortality in neonatal sepsis.
BMC Infect Dis
January 2025
Neonatal intensive care Unit, GanZhou Women and Children's Health Care Hospital, GanZhou, Jiangxi, China.
Objective: Neonatal sepsis, a severe infectious disease associated with high mortality rates, is characterized by metabolic disturbances that play a crucial role in its progression. The aim of this study is to develop a metabolism-related model for assessing 30-day mortality in neonatal sepsis.
Methods: The clinical data of neonatal sepsis at Ganzhou Women and Children's Health Care Hospital from January 2019 to December 2022 were retrospectively analyzed.
Metabolic profiles of cutaneous lupus have abnormalities in the nicotinamide adenine dinucleotide pathway.
Lupus Sci Med
January 2025
Dermatology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA
Objective: Metabolic reprogramming plays a critical role in modulating the innate and adaptive immune response, but its role in cutaneous autoimmune diseases, such as cutaneous lupus erythematosus (CLE), is less well studied. An improved understanding of the metabolic pathways dysregulated in CLE may lead to novel treatment options, biomarkers and insights into disease pathogenesis. The objective was to compare metabolomic profiles in the skin and sera of CLE and control patients using liquid chromatography-mass spectrometry (LC-MS).
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