Ask about this productRelated genes to: ACADVL antibody
- Gene:
- ACADVL NIH gene
- Name:
- acyl-CoA dehydrogenase very long chain
- Previous symbol:
- -
- Synonyms:
- VLCAD, LCACD, ACAD6
- Chromosome:
- 17p13.1
- Locus Type:
- gene with protein product
- Date approved:
- 1996-05-30
- Date modifiied:
- 2017-09-21
Related products to: ACADVL antibody
Related articles to: ACADVL antibody
- Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic metabolic disorder involving impaired fatty acid β-oxidation. It is caused by mutations in the Acyl-CoA Dehydrogenase Very Long Chain (ACADVL) gene, which encodes the VLCAD enzyme. The clinical presentation is diverse, ranging from a severe neonatal-onset form to a milder adult-onset form. We describe the first reported case in Vietnam, which is a 20-year-old man who presented with exercise intolerance, myalgia, and recurrent rhabdomyolysis triggered by fasting and exertion. Acylcarnitine profiling suggested a fatty acid oxidation disorder, and whole-exome sequencing identified the diagnosis of VLCAD deficiency with c747G > T (p.Trp249Cys) mutation. It has not previously been reported in the Vietnamese population. This case highlights the important role of neonatal screening and genetic testing in the early diagnosis of metabolic myopathies. In addition, it raises awareness of genetic disorders among healthcare providers and the public in developing countries. - Source: PubMed
Publication date: 2026/01/06
Kieu Vinh PhucNguyen Thang Van VietVu Anh Duc - Metabolic dysfunction-associated fatty liver disease (MAFLD) remains a global health burden with limited definitive therapies, highlighting the need for safe, food-derived interventions. Salvianolic acid B (SALB), a major water-soluble bioactive component of the traditional Asian health-promoting food , exhibits lipid-lowering, anti-inflammatory, and antioxidant properties, but its therapeutic potential and mechanisms in MAFLD remain unclear. Here, we employed an integrated approach combining network pharmacology, molecular docking, surface plasmon resonance affinity assays, lipidomics, and experiments in vitro and in vivo to address this gap. Network pharmacology combined with lipidomics identified PPAR-α as a key target of SALB. Molecular docking and SPR assays confirmed direct binding between SALB and PPAR-α. In vitro, SALB reduced triglyceride levels and lipid accumulation in HepG2 cells, enhanced fatty acid oxidation (FAO), and upregulated PPAR-α, PGC-1α, and FAO-related genes (CPT1, CPT2, ACADL, ACADVL). In HFD-fed mice, SALB decreased serum total cholesterol, triglycerides, LDL-C, ALT, AST, while increasing HDL-C. Additionally, SALB upregulated hepatic PPAR-α and FAO-related gene expression and suppressed hepatic reactive oxygen species production and inflammatory responses in both models. Collectively, our findings demonstrate that SALB, a natural food-derived bioactive compound, targets PPAR-α to ameliorate MAFLD by enhancing FAO, modulating lipid metabolism, and mitigating oxidative stress and inflammation. This work supports SALB's potential as a dietary supplement for MAFLD and metabolic disease management, reinforcing the value of exploring functional components from health-promoting food. - Source: PubMed
Publication date: 2026/03/19
Huang FengyanQiu ChenWang DannaNi YuanyingFu ZhuotaoFu LinchunLiang ChaoHuang ShangyiDeng Zhitong - Multiple complex mechanisms link type 2 diabetes mellitus (T2DM) with the pathogenesis, development, and progression of pancreatic cancer (PC). This study aims to elucidate these complex relationships using cross-disease co-expression analysis of PC and T2DM. Transcriptomic data from peripheral blood samples of patients with pancreatic ductal adenocarcinoma (PDAC), PDAC patients with diabetes (DP), patients with diabetes mellitus (DM), and healthy controls were analyzed. Following differential expression analysis (DEA), four disease-specific gene co-expression networks were constructed using weighted gene co-expression network analysis (WGCNA). Pearson correlation analysis was then applied to identify modules significantly associated with each clinical trait. In the experimental phase, peripheral blood samples from 20 PDAC patients, 20 DP patients, 20 DM patients, and 20 healthy controls were included. The co-expression network analysis identified modules highly associated with PDAC, DP, and DM. Among the 11 overlapping genes shared between these modules, the high-confidence hub genes , , and were selected for quantitative real-time PCR (qPCR) validation. Comparative analysis of expression among the four study groups showed significantly higher expression in the PDAC group than in the DM group (p < 0.01) and healthy controls (p < 0.0001). Similarly, expression was significantly elevated in the DP group compared with the DM group (p < 0.01) and healthy controls (p < 0.0001). The survival analysis also suggests that high expression is a favorable prognostic biomarker. - Source: PubMed
Publication date: 2026/03/31
Dehghanian FaribaKhalilian SheydaMousavian ZaynabAlavi ShahryarBahreini Amin - Metabolic dysfunction-associated steatohepatitis (MASH) is a severe progressive liver disease with limited therapeutic options. Dual agonists of peroxisome proliferator-activated receptor α/δ (PPARα/δ) have emerged as a promising therapeutic strategy. This study describes the design, synthesis, and comprehensive drug-likeness assessment of a novel series of tetrazolone derivatives as potent and selective PPARα/δ dual agonists. A representative compound, A32, exhibited potent PPARα/δ agonistic activity (PPARα EC₅₀ = 0.36 nM; PPARδ EC₅₀ = 1.31 nM), high selectivity over PPARγ (PPARγ EC₅₀ = 160.84 nM; γ/α = 447; γ/δ = 123), and favorable druggability properties. Furthermore, A32 upregulated the expression of PPARα/δ downstream genes involved in fatty acid oxidation, including PDK4, CPT1A, and ACADVL, in HepG2 cells. Taken together, these findings identify A32 as a promising candidate for further development for the treatment of MASH. - Source: PubMed
Publication date: 2026/03/17
Yao YaningFeng JiahuiYue HaoWu JieTong MinghuiShi XuanMiao ZhenyuWang HanQin MingzeGong Ping - Sengers Syndrome is an autosomal recessive mitochondrial myopathy caused by mutations of the acylglycerol kinase gene, which leads to an abnormal musculoskeletal and myocardial lipid and glycogen accumulation. It is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis (especially under stress condition). Therefore, cataract surgery might be indicated. Currently there is no treatment or management formalised for this disease, meaning it is a challenge in clinical practice. We introduce a case of perioperative anaesthetic management on a patient with Sengers Syndrome, considering its interest as it is one of the first known cases undergoing general anaesthesia. - Source: PubMed
Publication date: 2026/03/11
Perelló M ABellafont F JPujol-Ayach EAlegret M