Ask about this productRelated genes to: ALDOB antibody
- Gene:
- ALDOB NIH gene
- Name:
- aldolase, fructose-bisphosphate B
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 9q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: ALDOB antibody
Related articles to: ALDOB antibody
- : Hereditary fructose intolerance (HFI) is a rare autosomal recessive metabolic disorder caused by variants in the gene, resulting in aldolase B deficiency. Symptoms occur after the ingestion of fructose, sucrose, or sorbitol, leading to metabolic toxicity. Management is exclusively dietary, but clinical practice remains highly variable. This survey aimed to investigate current Italian dietary management practices for patients with HFI. : A cross-sectional centre-level survey was conducted using a 29-item questionnaire distributed to metabolic dietitians within the Italian Society for the Study of Inherited Metabolic Diseases network between April and May 2026. : Data from 27 dietitians across 15 Italian inherited metabolic disease centres were analysed. Over half of the centres (53.3%) provided care for both paediatric and adult patients, and all centres (100%) supplied structured educational materials for the fructose-, sucrose-, and sorbitol-restricted diet. Marked heterogeneity was observed in dietary practices, particularly in the classification of sugars and sweeteners, recommendations for cereal-based products, and fibre supplementation strategies. Cereal-based dietary guidance was provided by 10/15 centres (66.7%), ranging from no specific recommendations (5/15, 33.3%) to a preference for refined grains (7/15, 46.7%) or fibre-based restrictions (2/15, 13.3%). With regard to sugars and sweeteners, consensus was observed only for maltitol and sorbitol, which were classified as prohibited by all centres (15/15, 100%). Mannitol and isomalt were prohibited in 14/15 centres (93.3%). All other compounds showed variable recommendations across centres, including xylitol (prohibited 46.7%, permitted 40.0%), erythritol (permitted 60.0%), and sucralose (prohibited 33.3%, permitted 20.0%, restricted 20.0%, unspecified 26.7%). Vitamin C (100%) and folic acid (86.6%) were the most commonly prescribed supplements. One-third (33%) of the centres required the use of fibre supplements or osmotic laxatives to manage chronic constipation, with wide variability in the specific type of fibre recommended. : These findings highlight substantial heterogeneity in dietary management of HFI across specialised Italian centres and support the development of evidence-based, standardised nutritional guidelines to improve the consistency of care, nutritional adequacy, and patient outcomes. - Source: PubMed
Publication date: 2026/08/10
Bruni GiuliaZuvadelli JuriBernabei Silvia MariaBonfanti CristinaBorsani BarbaraDianin AliceFinizii AnnalisaFavaro AuroraGiorda SaraGugelmo GiorgiaIerardi Maria PaolaLuciano ChiaraMuscarella MartaPancaldi ChiaraParolisi SaraPerico VeronicaPierattini ValentinaPistolesi CinziaPontillo LidiaPretese RobertaPozzoli Angela IraQuattrini SaraRe Dionigi AliceRegazzi Maria GiuliaRossi AliceSalera SimonaTosi Martina - Impaired glucose tolerance (IGT) is the principal prediabetic stage preceding type 2 diabetes mellitus (T2D), yet islet-specific biomarkers capable of tracking progressive molecular changes from normal glucose tolerance (NGT) through IGT to T2D remain unestablished. We sought to identify a multi-gene biomarker panel with monotonically increasing expression and causal support across the full glycemic continuum. Two human islet transcriptomic datasets (GSE76895, GSE164416; = 181: NGT 50, IGT 56, T2D 75) were integrated following ComBat batch correction. Candidate biomarkers were identified at the intersection of limma differential expression and weighted gene co-expression network analysis (WGCNA), then refined through a five-algorithm machine learning consensus (LASSO, random forest, XGBoost, SVM-RFE, elastic net). Progressive expression was assessed by the Jonckheere-Terpstra (J-T) trend test. Two-sample Mendelian randomization (MR) with eQTLGen cis-eQTL instruments, Steiger directionality testing, and Bayesian colocalization provided causal inference. A diagnostic model was internally validated via 1000-iteration bootstrap resampling. Cell-type specificity was verified using single-cell RNA sequencing (GSE200044; 127,919 cells). A 12-gene biomarker panel (ALDOB, DKK3, PCOLCE2, KCNE4, INHBA, IRF8, ITGB2, LAPTM5, MYOF, RAMP3, RUNX2, S100A4) was identified, with all members passing Bonferroni-corrected J-T trend testing across the NGT-IGT-T2D axis ( ≤ 2.4 × 10). Notably, a direct IGT-versus-NGT transcriptome-wide comparison (11,948 genes) yielded no significant DEGs after FDR correction, indicating that prediabetic islet signals are subtle and detectable only through progressive trend analysis on preselected candidates. Nevertheless, the mean IGT-stage effect size of the 12 hub genes reached 41.9% of the T2D value, with KCNE4 achieving 94.0% (nominal = 1.75 × 10), identifying it as the earliest-altered biomarker. Two-sample MR using whole-blood eQTLs suggested protective effects of genetically proxied MYOF (OR 0.999, FDR = 1.68 × 10) and RUNX2 (OR 0.998, FDR = 1.68 × 10) on T2D risk, with Steiger testing supporting an expression-to-disease direction ( < 10). However, Bayesian colocalization indicated independent causal variants at both loci (PP.H3 > 0.76, PP.H4 < 0.001), substantially weakening the causal interpretation and suggesting that the MR associations may reflect linkage disequilibrium rather than shared causal biology. The panel achieved a bootstrap-corrected AUC of 0.833 (apparent 0.879) with PR-AUC of 0.951. Single-cell validation confirmed upregulation of 7 hub genes in β cells and revealed cell-type-specific patterns invisible in bulk data, including bidirectional INHBA regulation between β and α cells and progressive α-cell proportion expansion (28.97% → 46.41%). Pathway enrichment converged on three mechanistic axes: extracellular matrix remodeling, immune activation, and autoimmune-like responses, with direct enrichment of the type 1 diabetes pathway (hsa04940). This study establishes a 12-gene progressive islet biomarker panel spanning the NGT-IGT-T2D continuum, supported by machine learning robustness, genetic causal evidence, diagnostic modeling, and single-cell biological validation. KCNE4 emerges as a candidate early-warning biomarker for prediabetes, while MYOF and RUNX2 represent causally supported compensatory targets, collectively providing a multilayered foundation for T2D risk stratification and precision intervention. From a clinical perspective, the identification of progressive islet biomarkers at the prediabetic stage provides molecular support for early lifestyle intervention, reinforcing that timely detection and behavioral modification remain the most effective strategies to prevent T2D progression. - Source: PubMed
Publication date: 2026/08/18
Aisikaer NilupaerLiu ZaolingCai Shuya - Intestinal fibrosis is a major complication of Crohn's disease (CD), a subtype of inflammatory bowel disease (IBD) driven by chronic inflammation and resulting in irreversible structural damage requiring surgery. However, the molecular differences between inflammatory and fibrotic CD remain poorly defined. - Source: PubMed
Publication date: 2026/08/04
Philip DaryllSantos DanielaMondal SudipAlomar HaneenGkoutos GeorgiosAcharjee Animesh - Coronavirus disease 2019 (COVID-19) shows prominent clinical heterogeneity, presenting two distinct clinical phenotypes including asymptomatic infection and severe symptomatic disease, yet the molecular mechanisms driving such phenotypic differences remain unclear. This study aimed to dissect the molecular basis of divergent COVID-19 clinical manifestations by combining serum proteomics and Mendelian randomization causal inference methods. - Source: PubMed
Publication date: 2026/07/24
Guo NanaZhou XianleiPang ZiyiLi YanJiang CaixiaoGeng MinghaoWu WentaoHan XuLi Qi - Hereditary fructose intolerance (HFI) typically presents in infancy with acute metabolic crisis upon the introduction of fructose. We report a case of a 13-year-old female with chronic abdominal pain, short stature, and persistent mild transaminitis. Despite a late presentation, hepatic steatosis was identified on ultrasound and biopsy. Genetic testing confirmed a homozygous pathogenic ALDOB variant. This case illustrates that self-imposed dietary avoidance can mask classic HFI symptoms, leading to a delayed diagnosis of "lean" hepatic steatosis in adolescence. - Source: PubMed
Publication date: 2026/07/13
Hurlock AlexandraLah MelissaHyaduck Hannah SueMolleston Jean PJarasvaraparn Chaowapong