Ask about this productRelated genes to: ALAS2 Blocking Peptide
- Gene:
- ALAS2 NIH gene
- Name:
- 5'-aminolevulinate synthase 2
- Previous symbol:
- ASB
- Synonyms:
- -
- Chromosome:
- Xp11.21
- Locus Type:
- gene with protein product
- Date approved:
- 1989-05-25
- Date modifiied:
- 2019-04-23
Related products to: ALAS2 Blocking Peptide
Related articles to: ALAS2 Blocking Peptide
- Dried blood spot (DBS) sampling offers logistical advantages, but it remains unexplored whether analytical results are comparable across DBS sampling methods. This study investigated whether venous or capillary blood spotted on cellulose cards or collected with the Tasso-M20 device provides comparable results for the anti-doping RNA-based biomarkers of erythropoiesis, 5-aminolevulinic acid synthase (ALAS2), and carbonic anhydrase 1 (CA1). In the population of Swiss athletes (n = 12), DBS samples (venous-cellulose and Tasso-M20) were collected in routine anti-doping procedures. In healthy volunteers (n = 12), DBS samples (venous-cellulose, capillary-cellulose and Tasso-M20) were collected at baseline, after 1 week and 10 days post a 3-week recombinant human erythropoietin (rEPO) administration study. ALAS2 and CA1 mRNA were quantified using RT-qPCR, and agreement between matrices was assessed via Passing-Bablok regression. ALAS2 and CA1 expression showed strong linear agreement (r ≥ 0.96) across matrices. Passing-Bablok regression indicated no constant or proportional bias for ALAS2 across all comparisons. For CA1, no bias existed between venous-cellulose and Tasso-M20 in the athlete population, whereas a proportional bias of ~9%-22% was observed when comparing Tasso-M20 DBS with venous- or capillary-cellulose DBS in the rEPO study. No significant differences in relative RNA expression were observed across matrices at any timepoint in the administration study. ALAS2 and CA1 are reliably quantified across venous- and capillary-cellulose-based DBS and Tasso-M20 DBS samples. Strong agreement and minimal bias, with the modest CA1 bias being small relative to expected biological or treatment-induced variability, support their use for longitudinal monitoring, enabling less invasive, flexible, and decentralized sampling in research and anti-doping. - Source: PubMed
Publication date: 2026/05/20
Bejder JacobSchlechten CorentinMumenthaler ClaudiaSalamin OlivierKuuranne TiiaBonne Thomas ChristianGraae JonathanSørensen HenrikNordsborg Nikolai BLeuenberger Nicolas - Rheumatoid arthritis (RA) is frequently complicated by anemia, which exacerbates disease progression and worsens clinical outcomes. This study aimed to characterize the molecular alterations associated with RA complicated by anemia (RA_ane) using a transformer-based machine learning architecture combined with multiomics aggregation. Retrospective clinical analysis demonstrated a high incidence of anemia in patients with RA, which strongly correlated with systemic inflammation ( < 0.001). Specifically, hemoglobin levels showed significant negative correlations with C-reactive protein and erythrocyte sedimentation rate. To investigate the underlying molecular landscape, we established a multiomics cohort comprising 113 healthy controls, 257 patients with RA, 88 patients with systemic lupus erythematosus, and 37 patients with gout. By aggregating untargeted metabolomic, microbiomic, and transcriptomic profiles and applying an algorithmic consensus across multiple machine learning models, we identified a reliable panel of RA_ane biomarkers. These included depleted metabolites (e.g., l-tryptophan and glyceric acid) and up-regulated genes (e.g., , , and ). Functional enrichment analysis identified the dysregulation of the glycine, serine, and threonine metabolism (GSTM) pathway as a central molecular signature of RA_ane. Furthermore, comparative analyses indicated that these GSTM alterations were specific to RA_ane, distinguishing it from anemia in systemic lupus erythematosus and gout. The core metabolic changes and the up-regulation of were successfully validated in an independent external cohort and by quantitative polymerase chain reaction. In addition, our diagnostic classifiers demonstrated strong predictive performance (area under the receiver operating characteristic curve up to 0.854). This study maps a multidimensional molecular network centered on the GSTM pathway, providing proof-of-concept insights that may inform future diagnostic approaches and mechanism-driven research for RA-associated anemia. - Source: PubMed
Publication date: 2026/05/07
Huang JiaxinWei YuanliWang DongmeiYin ZhumingChen JianghuaJian CongcongZhu XiaotingLi ShilinZhang JieWang TingtingLiu CaizhenWei LingliGao JingZhu JingZou QinghuaWu JianhongZeng Fanxin - Congenital sideroblastic anemia (CSA) and thalassemia are both hereditary disorders of erythropoiesis, primarily affecting erythroid cells. Their typical manifestations include anemia and iron overload. In this study, we conducted clinical and molecular analyses on a male patient who was concurrently diagnosed with thalassemia and CSA. - Source: PubMed
Publication date: 2026/04/10
Chen Zhi-XiaoYang Li-YeWang Liang-TuoChen Bao-YingLiang Jian-LianLiu Li-LiYu Xiao-Hua - Acute respiratory exacerbations in bronchiectasis are important as they impair quality of life and are associated with accelerated lung function decline. Yet, no validated methods exist to identify children at increased risk of exacerbations. We therefore determined if peripheral blood gene expression (GE) signatures can identify those at risk of an impending exacerbation. Thirty-one children with bronchiectasis had RNA extracted from peripheral blood collected whilst they were clinically stable, with 22 having an exacerbation during the next 3 months. Microarray assays using the HumanHT-12 v4.0 Expression BeadChip identified differentially expressed genes (p value ≤ 0.05, fold change > 1.5). The top targets were verified using real-time quantitative polymerase chain reaction (rt-qPCR) assays, and receiver operating characteristics and area under the curve (AUC) were assessed. Functional analysis of these genes was performed using Ingenuity Pathway Analysis. Overall, 647 entities were significantly dysregulated (p < 0.05) in the exacerbation group (n = 22), and pathway analysis identified neutrophil degranulation as the dominant affected pathway, which was also significantly inhibited (p < 0.001). Forty entities (32 genes) were associated with a future exacerbation (p ≤ 0.05, fold change ≥ 1.5) and six genes (ANXA3, ALAS2, DEFA1, ALPL, SNCA, PROK2) were verified using RT-qPCR (all p < 0.04) as the most discriminatory. DEFA1 and ANXA3 had the highest AUC (0.92, 95% confidence interval [CI] 0.82-1.00, and 0.87, 95% CI 0.73-1.00, respectively). We identified neutrophil-associated genes from peripheral blood that could be potential biomarkers for children with bronchiectasis at increased risk of exacerbations during the next 3 months. These GE signatures warrant further investigation and validation in larger, independent cohorts. KEY MESSAGES: Exacerbations in paediatric bronchiectasis are important. Peripheral blood gene expression may help identify children at risk of exacerbations. Six neutrophil-associated genes were associated with a future exacerbation. Identifying predictive gene expression signatures warrants further investigation. - Source: PubMed
Publication date: 2026/04/01
O'Farrell Hannah EGoyal VikasChang Anne BGrimwood KeithCheng MichaelYerkovich Stephanie TBaines Katherine J - Oxaliplatin, a widely used chemotherapeutic agent, is associated with hematologic toxicities such as anemia, leukopenia, and thrombocytopenia. Despite their clinical relevance, the molecular mechanisms underlying lineage-specific bone marrow suppression remain poorly understood. - Source: PubMed
Publication date: 2026/02/16
Sudlow Leland CDu JunweiShahverdi KianaZhou HaiyingBerezin Mikhail Y