Ask about this productRelated genes to: MTHFD1 antibody
- Gene:
- MTHFD1 NIH gene
- Name:
- methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
- Previous symbol:
- MTHFC, MTHFD
- Synonyms:
- -
- Chromosome:
- 14q23.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-07-23
- Date modifiied:
- 2019-04-23
Related products to: MTHFD1 antibody
Related articles to: MTHFD1 antibody
- Cervical cancer (CC) remains one of the most prevalent malignancies in the female reproductive system. Methionine metabolism (MM) plays a pivotal role in various biological processes and has been implicated in cancer progression. However, its mechanisms in CC remain unclear. - Source: PubMed
Publication date: 2026/07/21
Luo YongXie Xiao-HuiHuang Xiao-QinHu Hui-Quan - Diabetic kidney disease (DKD) is a leading cause of end-stage kidney disease and chronic kidney disease. Oxidative stress, a key driver of renal fibrosis and a hallmark of DKD pathological changes, has been extensively studied for its role in DKD progression. However, its specific mechanisms remain unclear. Here, we show that homocysteine (Hcy) accumulation in proximal tubular epithelial cells (PTECs) is a significant contributor to mitochondrial oxidative stress in DKD. Through single-cell RNA sequencing (scRNA-seq) screening, we identify lncPTEC, a DKD-associated long non-coding RNA (lncRNA) from the PTEC cluster. Notably, we find that upregulated lncPTEC correlates with elevated albuminuria in DKD patients and exacerbates mitochondrial oxidative stress, epithelial-mesenchymal transition (EMT) and renal tubular fibrosis both in vitro and in vivo. Mechanistically, lncPTEC is transcriptionally upregulated by the transcription factor specificity protein 1 (SP1) under hyperglycemic conditions. Furthermore, lncPTEC directly interacts with the established key factor of Hcy metabolism, methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), promoting its ubiquitination and degradation via the ubiquitination-related protein UBQLN1. This process leads to Hcy accumulation, mitochondrial oxidative stress, and subsequent DKD progression. Hence, our findings elucidate the role of the lncPTEC/MTHFD1 axis in Hcy-mediated mitochondrial oxidative stress, offering potential diagnostic biomarkers and therapeutic targets for DKD. - Source: PubMed
Publication date: 2026/07/07
Wang QijiaWu TianhuiLi PeilingZha HeWu KeqianLiu HandengPeng RuiPeng XuemeiLin ZiyueLv DanLiao XiaohuiSun YanZhang Zheng - Down syndrome (DS), the most frequent human genetic disorder marked by an extra copy of chromosome 21 (Hsa21) or a portion thereof, leads to physical and cognitive impairments. Following the Lejeune work, researchers focused on a potential anomaly within the folate-mediated one-carbon metabolism (FOCM). Here, we present a FOCM model modified from a previous work with the incorporation of the enzyme cystathionine beta-synthase (CBS), whose encoding gene is located on Hsa21, coupled with the methionine input rate. Systematic perturbation of FOCM enzyme activity rates has been performed to explore possible in silico configurations to simulate the DS condition. The perturbed vs. unperturbed model-derived ratio concentrations of tetrahydrofolate, 5-formyl-tetrahydrofolate, 5-methyl-tetrahydrofolate, S-adenosyl-homocysteine, and S-adenosyl-methionine were compared with the known literature through various statistical approaches. After investigating public transcriptomic databases, the FTS (formate-tetrahydrofolate ligase) perturbation achieved the best overall score. Although the FTS encoding gene (MTHFD1) is not located on Hsa21, it was found to be overexpressed in the DS condition. In addition, an interesting correlation emerged with the PTG (phosphoribosylglycinamide formyltransferase) perturbation and the corresponding encoding gene (GART), located on Hsa21 and notably over-expressed in the DS condition. The model thus identifies key enzyme activities that warrant further investigation. - Source: PubMed
Publication date: 2026/06/26
Piovesan AllisonPoluzzi DilettaRamacieri GiuseppeLocatelli ChiaraAntonaros FrancescaVione BeatriceCaracausi MariaPelleri Maria ChiaraMarchetti Luca - Methylene-tetrahydrofolate dehydrogenase 1 (MTHFD1) deficiency is a rare inborn error of immunity (IEI) involving defects in folate metabolism. It can present with combined immunodeficiency and variable phenotypic features, including recurrent bacterial infections, megaloblastic anemia, and failure to thrive. - Source: PubMed
Publication date: 2026/06/16
Altammar FajerElsayed HaidyElshinawy MohamedAl-Herz Waleed - T cells are central drivers of inflammation across autoimmune and inflammatory diseases, yet current therapies inadequately target pathogenic T-cell pathways, limiting durable disease control. Here, we identified a novel, targetable transcriptional-metabolic axis that sustains inflammatory T-cell responses, characterized by NFATc1-regulated activation of MTHFD2-dependent one-carbon metabolism. We demonstrate that NFATc1 directly binds the MTHFD2 promoter region, driving metabolic reprogramming in activated T cells from rheumatoid arthritis (RA) patients as well as in experimental arthritis models. Pharmacological inhibition of MTHFD1/2 using the novel small molecule TH9619 suppresses proinflammatory cytokine production, expands Foxp3⁺ regulatory T cells and protects against cartilage and bone damage in vivo. Proteomic profiling reveals that TH9619 elicits a distinct molecular response in patients' T cells, divergent from the currently used anti-folate therapy, particularly in inadequate responders. These findings use RA as the proving ground to establish NFATc1-mediated MTHFD2 activation as a critical regulator of sustained T-cell-driven inflammation and support selective MTHFD1/2 inhibition as a novel, mechanism-based therapeutic strategy for RA. - Source: PubMed
Publication date: 2026/06/10
Manolakou TheodoraShen JianyuBoddul SanjaykumarSamiotaki MartinaPanagias Michail AngelosSentis GeorgeSilva Tarcília AparecidaArgyriou AlexandraNikolopoulos DionysisSanjiv KumarChemin KarineWermeling FredrikHenriksson MartinSlipicevic AnaJakobsson Per-JohanChatzidionysiou KaterinaHelleday Thomas