Ask about this productRelated genes to: BSCL2 antibody
- Gene:
- BSCL2 NIH gene
- Name:
- BSCL2 lipid droplet biogenesis associated, seipin
- Previous symbol:
- GNG3LG, SPG17
- Synonyms:
- seipin
- Chromosome:
- 11q12.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-07-02
- Date modifiied:
- 2019-04-23
Related products to: BSCL2 antibody
Related articles to: BSCL2 antibody
- To investigate the causal association between Seipin and breast cancer risk using the Mendelian randomization (MR) approach. - Source: PubMed
Publication date: 2026/07/21
Zeng JunfengWang XinxuFan LuxuanBai TaoJia HongyanYang Jing - Adipocyte dysfunction is a major driver of obesity-associated cardiometabolic disease, underscoring the need to understand how lipid storage and mobilization are regulated and disrupted. The ER-anchored protein Seipin governs lipid droplet (LD) biogenesis and ER-LD and ER-mitochondria (MAM) contacts, and its loss impairs calcium transfer and causes lipodystrophy. Here, we investigated whether Seipin coordinates MAM and ER-LD remodeling during adipocyte lipid handling. In subcutaneous adipose tissue from inducible Seipin-knockout mice, electron microscopy and proximity ligation assays revealed that feeding reduces MAMs while increasing ER-LD and mitochondria-LD contacts, a remodeling abolished by Seipin deficiency. Lipid loading elevated tripartite MAM-LD contacts in controls but not knockouts. Fluorescence recovery after photobleaching showed that impaired triglyceride transfer to LDs in Seipin-deficient cells was rescued by the MAM-LD-stabilizing peptide 'Linker-ER-Mi', in a calcium-dependent manner. During adipogenesis and lipid loading, MAM-LD contacts increased, whereas MAM-cytosolic mitochondria contacts declined; however, obesity blunted this remodeling. Furthermore, disrupting membrane contact sites impaired lipid flux, lipolysis, and insulin signaling. Taken together, these findings identify MAM-LD as regulators of adipocyte metabolic flexibility. - Source: PubMed
Publication date: 2026/07/22
Palard MarieChadeuf GillianeCarpentier MaximeRenaud Clotilde C NFrey SamuelCroyal MikaelShaaban RolaHadjadj SamyCloteau ChloeEl Khallouki NaimaBomme PerrineLe Lay SoazigMajrouh ManuelPaul-Gilloteaux PerrineHumbert AlexandreDurand ChristineBertocchini NicolasDubreil LaurenceCombot YoannAntreou AntriaLe May CedricDucheix SimonCariou BertrandGiordano FrancescaRieusset JenniferThiam Abdou RachidPrieur Xavier - Alzheimer's disease (AD) remains an incurable neurodegenerative disorder with an elusive pathogenesis, where emerging evidence implicates metabolic dysregulation and ferroptosis in neuronal loss. Although the BSCL2 gene, which encodes Seipin, is crucial for lipid metabolism, its specific role in the progression of AD remains undefined. This study employed Mendelian randomization (MR) analysis, in vivo APP/PS1 mouse models, and in vitro BV2 microglial assays to elucidate the mechanistic axis linking BSCL2, metabolites, and ferroptosis in AD. MR analysis demonstrated a causal relationship between genetically predicted elevated BSCL2 expression and an increased risk of AD, partially mediated by glycine. Supporting these genetic findings, stereotactic knockdown of Seipin in the hippocampus of APP/PS1 mice significantly ameliorated cognitive deficits without inducing systemic metabolic toxicity. Mechanistically, Seipin deficiency reduced ferroptosis in both AD mouse brains and Aβ-stimulated microglia, as evidenced by the upregulation of anti-ferroptotic markers (GPX4, Nrf2, HO-1) and the suppression of pro-ferroptotic effectors (ACSL4, NCOA4). Moreover, glycine supplementation partially ameliorated the aggravated ferroptotic phenotype caused by Seipin overexpression, indicating a functional feedback mechanism in which glycine facilitates glutathione synthesis to mitigate Seipin-induced lipid peroxidation. These findings collectively identify Seipin as a novel regulator of ferroptosis in the pathogenesis of AD and underscore the potential of the BSCL2-glycine-ferroptosis axis as a therapeutic target. Future research should aim to elucidate the specific molecular interactions between Seipin and the iron-handling machinery and to validate glycine-based interventions in clinical settings as a means to prevent neurodegeneration. - Source: PubMed
Publication date: 2026/07/21
An XiaoqiongWu DaojuWang YijiaRen ZhenkuiYu Wenfeng - Wing polyphenism-the developmental switch between flight-capable long-winged and flightless short-winged morphs-is a central example of phenotypic plasticity, yet its genomic and regulatory architecture remains poorly resolved outside a few acridoid models. Here we report a chromosome-level genome for the pygmy grasshopper Bolivaritettix circocephalus (Tetrigidae), spanning 1.27 Gb across seven pseudochromosomes (scaffold N50 = 284 Mb; 96.0% complete BUSCOs) and encoding 21,985 protein-coding genes. Phylogenomic analysis of nine orthopterans placed B. circocephalus as sister to Eucriotettix oculatus (divergence ∼14.4 Ma), and gene-family analysis revealed 205 expanded families enriched for chromatin assembly and sensory perception, alongside 131 contracted families enriched for juvenile-hormone and terpenoid metabolism. A genome-wide association study of 50 individuals (30.9 million SNPs) across seven morphometric traits and wing morph identified 2084 candidate genes and recurrent pleiotropic loci, notably a Bonferroni-significant cluster on BoCi001 containing the lipid-storage gene Seipin (BSCL2) and a chemosensory/opsin cluster on BoCi005. A developmental transcriptome (six nymphal instars and both adult morphs) validated these candidates, localized the principal transcriptional switch to the instar3-instar4 transition, and-through inflection-network and WGCNA analyses-converged on a wing-morph-specific module enriched for lipid and energy metabolism. FAR-17a/AIG1-like (BoCi004-g2346) and the respiratory subunit NDUFV1 emerged as genes simultaneously supported by genetic association, differential expression, inflection response and module hubness. These results establish the first comprehensive genomic resource for wing-polyphenic Tetrigidae and nominate lipid/energy metabolism, coordinated by transcriptional and chromatin regulators, as a core axis of the dispersal-reproduction trade-off in a deeply divergent orthopteran lineage. - Source: PubMed
Publication date: 2026/07/17
Deng Wei-AnLi ZhengTeng Cai-LiGuan De-Long - Congenital Generalized Lipodystrophy (CGL), usually caused by pathogenic variants in AGPAT2 (CGL1) and BSCL2 (CGL2), is characterized by near-total loss of subcutaneous adipose tissue, low leptin levels and severe metabolic and systemic comorbidities. Skeletal abnormalities including diffuse sclerosis, lytic-appearing bone lesions, and high bone mineral density have been recognized in CGL, but the prevalence and clinical and radiological features of these bone phenotypes remain ill-defined. The aim of this single-institution case series and systematic review was to evaluate bone manifestations and radiological findings associated with CGL1 and CGL2. Data sources were PubMed, Scopus, Embase, CINAHL Plus, Global Index Medicus, Web of Science: Core, National Institutes of Health medical records. Articles were screened utilizing a dual reviewer process in Covidence. Included publications reported primary bone and radiologic findings in patients with CGL1 or CGL2. Two reviewers extracted data using REDCap and assessed risk of bias. 43 articles were included in the review, presenting 214 cases of CGL (90 CGL1, 81 CGL2, and 43 genetics not reported). Data from NIH patients was extracted by retrospective chart review. The NIH cohort had 60 CGL patients (40 CGL1, 20 CGL2). Skeletal imaging included radiographs, MRI, CT, and NaF PET scans. In the literature and NIH cases, respectively, diffuse osteosclerosis was reported in 37% and 39%, lytic-appearing lesions in 64% and 53%, and high bone mineral density in 68% and 43%. Individuals with CGL1 and CGL2 present with distinct and heterogeneous bone phenotypes including lytic-appearing lesions primarily affecting long bones, diffuse osteosclerosis, and high bone mineral density. These bone manifestations are often overlooked despite high prevalence and clinical relevance. Potential mechanisms include increased differentiation of bone marrow mesenchymal cells into osteocytes and effects of increased insulin or decreased leptin signaling. - Source: PubMed
Publication date: 2026/06/13
Dyer M MahlonTuska Rebecca MBrush Maiah NLivinski Alicia MLebenthal YaelYao LawrenceFerreira Carlos RCollins Michael TBrown Rebecca J