Ask about this productRelated genes to: FHIT protein
- Gene:
- FHIT NIH gene
- Name:
- fragile histidine triad
- Previous symbol:
- -
- Synonyms:
- FRA3B, AP3Aase
- Chromosome:
- 3p14.2
- Locus Type:
- gene with protein product
- Date approved:
- 1996-10-18
- Date modifiied:
- 2019-04-17
Related products to: FHIT protein
Related articles to: FHIT protein
- BackgroundIn obstructive sleep apnea syndrome (OSAS), intermittent hypoxia and oxygen desaturation resulting from recurrent apnea episodes may adversely affect vestibular function.ObjectiveThis study aimed to provide a multidimensional evaluation of vestibular function in individuals with OSAS by assessing objective and functional/subjective vestibulo-ocular reflex (VOR), visual perception, and fall risk.MethodsVideo Head Impulse Test (vHIT), functional Head Impulse Test (fHIT), Tinetti Balance and Gait Test, and static and dynamic subjective visual vertical and horizontal tests were administered to 22 individuals with moderate OSAS, 22 with severe OSAS, and 23 healthy controls aged 18-55 years.ResultsFall risk was significantly increased in both OSAS groups compared with controls. Dynamic visual perception and functional VOR performance were predominantly impaired in severe OSAS, whereas vHIT gains did not differ between groups. Tinetti scores were not associated with subjective visual perception but showed moderate-to-strong correlations with fHIT performance in moderate and severe OSAS.ConclusionsFall risk is increased in OSAS, and functional VOR deficits may occur despite normal vHIT findings, suggesting involvement of higher-level (central) vestibular processing and underscoring the need for comprehensive vestibular assessment. - Source: PubMed
Publication date: 2026/05/10
Nas Özütemiz GamzeKöycü AlperKüpeli Ayşe Elif - Glomerulonephritis (GN) is an immune-mediated kidney disorder that causes glomerular injury, progressive renal dysfunction, and end-stage kidney disease. Traditional treatments such as corticosteroids and immunosuppressants are limited by variable efficacy and severe adverse effects, highlighting the need for novel therapeutic targets and personalized strategies. We performed a systematic multi-omics Mendelian randomization (MR) analysis applying established proteomic and transcriptomic quantitative trait loci (pQTL/eQTL) resources to genome-wide association studies (GWAS) of four GN subtypes: acute, chronic, IgA nephropathy, and membranous nephropathy. Bayesian colocalization was used to strengthen causal inference, while independent replication and meta-analysis were conducted using the FinnGen cohort. Mouse knockout phenotypes, drug reposition, and computational pharmacology algorithm were applied to evaluate translational potential. Proteomic-wide MR revealed MTR as protective in chronic GN and HCK as a risk factor for membranous nephropathy, whereas CD302 and CDKN1B showed protective effects. Transcriptomic-wide MR identified candidate genes across GN subtypes: RECQL, BRSK2, and MGP in acute GN; AFM, CFHR5, and EPHB2 in chronic GN; IL6R, MBL2, and PRSS3 in IgA nephropathy; and TIMP4, HCK, and PEAR1 in membranous nephropathy. Bayesian colocalization analysis provided strong support for shared causal variants (PPH4 > 0.8) for HCK, CD302, TIMP4, PEAR1, PARP1, and FHIT. Replication and meta-analysis in the FinnGen cohort provided additional consistency across datasets, while downstream translational annotations highlighted IL6R, MBL2, C5, and CD55 as potential hub targets within immune and complement-related pathways. This integrative multi-omics study provides novel insights into the genetic architecture and therapeutic landscape of GN, identifying potential therapeutic targets that may inform precision nephrology and drug repurposing. Notably, most targets supported by colocalization, mouse knockout phenotypes, and drug repurposing evidence were predominantly identified in membranous nephropathy, suggesting a particularly tractable genetic and therapeutic architecture for this subtype. - Source: PubMed
Publication date: 2026/04/16
Li GuoqiangJianhan FuGu JiashuWang YinhuaiLiu JiachenYang DongZeng DianjieZhao Pengcheng - Multiple sclerosis (MS) is the most prevalent cause of non-traumatic neurological disability in young adults. Vestibular dysfunction (VD) is frequently observed in MS patients and may considerably impair their daily activities. Early diagnosis of VD is pivotal for optimizing treatment. - Source: PubMed
Publication date: 2026/04/02
Neri FrancescoBianchi AlessiaLuchetti LudovicoBreccia DiegoBenelli AlbertoFerrone SalvatoreRomanella SaraMencarelli LuciaRossi SimoneUlivelli MonicaMandalà Marco - Fragile histidine triad (FHIT) is a well-known tumor suppressor frequently downregulated in gastric cancer (GC), yet its molecular mechanisms remain insufficiently understood. In this study, we reveal that FHIT expression is significantly reduced during carcinogen-induced malignant transformation of gastric epithelial cells, independent of its diadenosine triphosphate hydrolase activity. Ribosome profiling and polysome analysis demonstrate that FHIT regulates the translation of lysine-specific demethylase 6B (KDM6B), a key epigenetic modulator, without altering its transcription. KDM6B promotes expression of proapoptotic genes, including PUMA, NOXA, GADD45, and TP53, by demethylating H3K27me3 at their promoters. In addition, KDM6B negatively regulates cytokine-related genes, such as TNFRSF12A, TNFSF9, and TNFRSF21. Functional assays, including colony formation, micronucleus assays, and xenograft tumor growth studies, confirm that FHIT's tumor-suppressive effects are independent of its enzymatic activity but rely on translational regulation. Our findings reveal a novel FHIT-KDM6B axis that integrates translational and epigenetic regulation to inhibit GC progression. Targeting this pathway may offer promising therapeutic strategies for early stage GC intervention. - Source: PubMed
Publication date: 2026/03/26
Hu HaoruiWang YumingQi HongyanLiu GuilingWang RunanShen Jing - Development of novel therapies for acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) is hindered by limited biomarkers to identify appropriate target populations and poor translatability of preclinical drug candidates. In this study, we sought to validate Fragile histidine triad diadenosine triphosphate (FHIT) deficiency as a predictive biomarker for decapping scavenger enzyme (DCPS)-targeted therapy in AML and MDS, and to identify clinically accessible proxy biomarkers. - Source: PubMed
Publication date: 2026/03/27
Grassi FrancescaBast LisaSingh MadhurendraTobiasson MagnusWalfridsson Juliande Milito AngeloAndersson MartinHöglund Andreas