Ask about this productRelated genes to: Vamp1 Blocking Peptide
- Gene:
- VAMP1 NIH gene
- Name:
- vesicle associated membrane protein 1
- Previous symbol:
- SYB1
- Synonyms:
- VAMP-1
- Chromosome:
- 12p13.31
- Locus Type:
- gene with protein product
- Date approved:
- 1990-03-14
- Date modifiied:
- 2016-10-05
Related products to: Vamp1 Blocking Peptide
Related articles to: Vamp1 Blocking Peptide
- The etiology of idiopathic sudden sensorineural hearing loss (iSSNHL) remains unclear, and genome-wide genetic evidence is limited. We conducted a multicenter Japanese case-control genome-wide association study including 192 clinically defined iSSNHL cases and 15,302 controls aged ≥80 years without a history of hearing loss. After cross-platform SNP harmonization and imputation (Eagle/Minimac4), association testing was performed using dosage-based logistic regression in PLINK 2.0, adjusting for sex and principal components (PC1-PC10). Gene- and pathway-level analyses were conducted using MAGMA and the PANTHER overrepresentation test. Genomic inflation was modest (λ_GC = 1.04). Eight loci reached genome-wide significance ( < 5 × 10), led by , with additional loci near , , , , , , and ; 21 loci met the suggestive threshold ( < 1 × 10). MAGMA identified eight genes at FDR < 0.05 (, , , , , , , and ). These findings suggest that immune-inflammatory and cellular stress-homeostasis mechanisms may contribute to iSSNHL susceptibility and provide candidate loci for future replication and functional studies. - Source: PubMed
Publication date: 2026/02/14
Kitoh RyosukeNishio Shin-YaTakumi YutakaUsami Shin-Ichi - Alzheimer's disease (AD) is characterized by widespread molecular dysregulation, with the APOEe4 allele recognized as its strongest genetic risk factor. However, the mechanisms by which APOEe4 drives distinct molecular changes - whether by exacerbating pathology or triggering compensatory responses - remain incompletely understood. We generated and analyzed proteomic, epigenetic, and genetic data from post-mortem dorsolateral prefrontal cortex samples of a uniquely APOEe4-enriched subset of the Religious Orders Study and Memory and Aging Project (ROSMAP). Specifically, we generated DIA LC-MS proteomic data (n = 302), analyzed previously generated DNA methylation profiles from our group (n = 310), and used published whole-genome sequencing data (n = 254) to compute polygenic risk scores (PRS). In this cohort, 69% (n = 214) were APOEe4 carriers, and 19.6% (n = 42) of them showed no pathological evidence of AD based on NIA-Reagan criteria, enabling identification of APOEe4-related risk and resilience mechanisms. In the absence of AD, APOEe4 carriers exhibited lower levels of 27 proteins, suggesting early synaptic (e.g., VAMP1, SYN3, CASKIN1) and metabolic (e.g., GLUD1, PI4KA) vulnerability. By contrast, APOEe4 carriers with AD displayed marked upregulation of inflammatory and proteostatic proteins (e.g., GNAO1, AHNAK, FGG, HEBP1, APEX1, RAB4A, SLC12A5, LRP1, BAG6) and hypermethylation of cg06329447 in ELAVL4. Network analyses highlighted convergent disruptions in synaptic transmission, metabolism, and proteostasis - key pathways altered in APOEe4-associated AD. Mediation analyses identified GRIPAP1 and GSTK1 as top protein mediators (accounting for ~26-33% of APOEe4's effect), with VAMP1, CASKIN1, DPP3, SYN3, and FGG each contributing ~9-15%. ELAVL4 hypermethylation also mediated ~12% of the APOEe4 effect, linking epigenetic dysregulation to disease risk. To assess whether the identified proteins reflected broader genetic risk for AD or were specific to APOEe4, we calculated PRS both excluding and including the APOE genomic region. While the non-APOE PRS showed no association with identified molecular markers, the APOE-inclusive PRS was significantly associated with eight AD-related proteins in carriers, indicating they are not explained by polygenic risk outside of APOE. Finally, predictive modeling stratified by APOEe4 status revealed that in non-carriers, PRS most effectively classified AD (AUC = 0.73), whereas in carriers, proteomic and epigenetic markers outperformed PRS (AUC up to 0.74). Together, these findings demonstrate that APOEe4 confers AD risk through early synaptic and metabolic disruptions and later-stage inflammatory and epigenetic changes, laying the groundwork for genotype-tailored biomarker development and therapeutic strategies. - Source: PubMed
Publication date: 2025/10/16
Markov YaroslavPriyanka AhanaXu LeqiWang WeiweiThrush-Evensen KyraGonzalez JohnBorrus DanielKasamoto JessicaSehgal RaghavZou GraceFraij JenelCarlyle Becky CHorvath SteveBennett David AZhao Hongyuvan Dyck Christopher HLam TuKiet TLevine Morgan EHiggins-Chen Albert T - To explore the potential the role of miR-151a-5p in sperm dysfunction and its association with DNA fragmentation, mitochondrial dysfunction, and male infertility. - Source: PubMed
Publication date: 2025/11/11
Lin XiaotingGuo JiamingWang XiboXiao XiSun JieDing WenPeng YunYan Hongli - Synaptic vesicle fusion is a process that involves the release of neurotransmitters from synaptic vesicles into the synaptic cleft. is a protein that mediates synaptic vesicle fusion by forming a complex with other proteins on the presynaptic membrane. Mutations in have been recently identified as a cause of a rare form of hereditary spastic paraplegia (HSP), a group of genetic disorders characterized by the gradual development of muscle stiffness and weakness in the lower extremities. We discuss the current knowledge on the structure and function of and its role in synaptic transmission, the clinical features and genetic findings of patients with mutations, the possible pathogenic mechanisms of mutations, such as impaired SNARE complex formation, calcium signaling, and synaptic vesicle recycling and the potential therapeutic strategies for modulating function and restoring synaptic vesicle fusion in hereditary spastic paraplegia patients. We also highlight the gaps and emerging technologies that may advance the understanding and treatment of -related hereditary spastic paraplegia. Furthermore, the review presents some experimental studies that have investigated the molecular and functional consequences of mutations in various models, such as mice, cell lines, or patient-derived samples. These studies have provided evidence for reduced or altered expression, impaired synaptic vesicle fusion and neurotransmitter release, altered synaptic plasticity and excitability, and neuronal degeneration in mutation carriers. These findings suggest that mutations have a significant impact on synaptic vesicle fusion dynamics and neuronal function and may contribute to the pathogenesis and phenotypic variability of hereditary spastic paraplegia. - Source: PubMed
Publication date: 2025/08/26
Israr ShifaIkrama MuhammadUsama MuhammadHumayon Maryam - The N-methyl-D-aspartate receptor (NMDA-R) antagonist S-ketamine has been approved as a rapid-acting antidepressant for treatment-resistant depression (TRD). The antidepressant mechanisms have not fully been elucidated; however, alterations of synaptic proteins and mechanisms may play a vital role. Here, we study the effect of a single subanaesthetic dose of 15 mg/kg S-ketamine vs saline 1 h after administration in the Wistar Kyoto rat model of depression on the density of synaptic vesicle glycoprotein 2A (SV2A) and the metabotropic glutamate receptor 5 (mGluR5) using [H]UCB-J and [H]MPEPγ autoradiography, respectively, compared with control Wistar Hannover rats. In a separate cohort of Wistar Kyoto rats, we investigate the transcriptional regulation of presynaptic markers , , postsynaptic markers , NMDA receptor subunits , AMPA receptor subunits , GABA type A receptor-associated protein (), glutamate metabotropic receptor subtype 5 (), and brain-derived neurotrophic factor () using real-time quantitative polymerase chain reaction (qPCR) in hippocampus in response to S-ketamine vs saline injection. In Wistar Kyoto rats, S-ketamine increases [H]UCB-J binding to SV2A compared to saline-injected controls in the nucleus accumbens and dorsal and ventral hippocampus, an effect absent in the Wistar Hannover strain. No changes were observed in [H]MPEPγ binding to mGluR5, nor in gene regulation. S-ketamine can regulate presynaptic SV2A density in brain areas relevant to depression in the Wistar Kyoto model, but not in controls, suggesting a role for SV2A in the antidepressant effects of S-ketamine. - Source: PubMed
Publication date: 2024/06/20
Bærentzen Simone LarsenWaszkiewicz Anna LeeThomsen MajkenKnudsen CelineElfving BetinaLandau Anne M