Ask about this productRelated genes to: SMPD1 antibody
- Gene:
- SMPD1 NIH gene
- Name:
- sphingomyelin phosphodiesterase 1
- Previous symbol:
- -
- Synonyms:
- ASM
- Chromosome:
- 11p15.4
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2016-10-05
Related products to: SMPD1 antibody
Related articles to: SMPD1 antibody
- This report describes a case of Niemann-Pick disease caused by double missense mutations in the SMPD1 gene and investigates the morphological relationship between Niemann-Pick cells and sea-blue histiocytes. The patient's bone marrow smear showed typical Niemann-Pick cells, containing small to moderate sea-blue granules, as well as sea-blue histiocytes. Next-generation sequencing revealed heterozygous SMPD1 mutations c.1361C>A (p. Ala454Asp) and c.1666C>T (p. His556Tyr). While these mutations were previously reported in the literature, their clinical significance remains unclear. Since missense mutations in SMPD1 are pathogenic and can cause Niemann-Pick disease, it is hypothesized that a morphological link exists between Niemann-Pick cells and sea-blue histiocytes. Combining bone marrow morphology with genetic testing can improve the diagnostic accuracy for this disease and other related lipid storage disorders. - Source: PubMed
Wei YGuo HXu J NChen Y YShi H X - Inborn errors of metabolism (IEM) are frequently underdiagnosed in low-resource settings due to limited diagnostic infrastructure. We hypothesized that an integrated clinical-genomic approach could improve diagnosis and management of these conditions. Nineteen Pakistani families with clinically suspected IEM underwent systematic clinical assessment, available biochemical testing, and whole-exome sequencing (WES). Variants were classified according to ACMG/AMP guidelines using evidence from population databases, in silico prediction tools, segregation analysis, and genotype-phenotype correlation. Clinical diagnoses and management strategies were reassessed based on molecular findings. WES provided a molecular diagnosis in 90% (17/19) of families and enabled targeted therapeutic interventions in 70% (13/19). However, clinical outcomes were variable due to advanced disease in some cases and limited follow-up. Seven novel variants were identified in CYP27B1, DYM, MTTP, ALDH3A2, USP53, BRAF, and JAG1, while twelve recurrent mutations were detected in PIGN, GCDH, CLCN7, RNASEH2C, ABCB11, MPV17, IDUA, SMPD1, FBP1, SLC37A4, ACADM, and UGT1A1. Integrating genomic findings with clinical reassessment improved diagnostic precision. An integrated clinical-genomic approach enabled accurate diagnosis of pediatric IEM in resource-limited settings, with particular utility in children with metabolic disorders in a consanguineous population. Identification of both novel and recurrent variants expanded the genotypic and phenotypic spectrum of these disorders and highlighted the clinical utility of genomic diagnostics in optimizing patient care. - Source: PubMed
Publication date: 2026/04/13
Mansoor SumreenaAbid SabeenImran MuhammadMalik Munir IqbalAli QamarHussain ShanawazAli Hafiz AsimMasood YasserChoudhry ShehlaQamar RaheelAzam Maleeha - Childhood interstitial lung disease (chILD) refers to a rare and heterogeneous group of disorders that can arise from genetic or acquired causes. Interstitial lung involvement due to metabolic diseases is a rare but significant condition among chILD cases. - Source: PubMed
Balcı Merve SelçukZirek FazılcanKekeç HandanHangül MelihÖztürk Gökçen KartalYavuz Burcu ÇaprazBilgin GülayÖzsezen BesteHızal MinaBaşkan Azer KılıçÖzdemir AliGürsoy Tuğba RamaslıÇobanoğlu NazanEyüboğlu Tuğba ŞişmanlarEmiralioğlu NagehanCeylan Ahmet CevdetOğuz BernaOrhan DiclehanKılınç Ayşe AyzıtGirit SaniyePekcan SevgiCinel GüzinYalçın EbruKiper NuralGökdemir Yasemin - Post-traumatic Deep vein thrombosis (pt-DVT) is a serious health issue that often leads to considerable morbidity and mortality especially in patients with coronary heart disease (CHD). Diagnosis of DVT in a clinical setting, however, presents considerable challenges. Multiomics techniques has led to high diagnostic and prognostic accuracy for various pathological conditions. - Source: PubMed
Publication date: 2026/03/28
Aliyu MukhtarZhang KunHuang WeiGu JinshanXue HanzhongLi ZhongLin HuaGuo Yan - Dysregulated chronic inflammation underlies a spectrum of severe asthma phenotypes, among which neutrophilic asthma (NA) represents a treatment-recalcitrant endotype characterized by Th17-driven airway inflammation and steroid resistance. Although lipid mediators are known to play dual roles in promoting and resolving inflammation, the lipid species governing the Th17-neutrophil axis in NA remain unknown. Here, through integrated lipidomic profiling of clinical samples (exhaled breath condensate, plasma, sputum) from an NA cohort and a murine model of Th17-driven airway inflammation, a deficiency in very-long-chain ceramides, notably Cer24:1, was identified. This reduction correlated with disease severity and neutrophilic inflammation. In vivo, Cer24:1 supplementation alleviated airway hyperresponsiveness and neutrophilic infiltration, while Smpd1 knockout mice-with impaired ceramide generation-displayed exacerbated Th17 pathology. Using structure-guided molecular docking, surface plasmon resonance, and functional assays, Cer24:1 was shown to directly target the prostaglandin E2 receptor EP2 on CD4 T cells. This interaction suppressed JAK2-STAT3 signaling and RORγt-driven Th17 differentiation. Notably, PGE competitively reversed Cer24:1's protective effects, further supporting EP2-dependent modulation. Our results reveal Cer24:1 as an endogenous pro-resolving lipid that constrains neutrophilic inflammation via direct modulation of the EP2-STAT3 axis in Th17 cells, providing a new metabolic checkpoint and potential therapeutic strategy for severe neutrophilic asthma. - Source: PubMed
Publication date: 2026/03/13
Liu HuanAili AbudureyimujiangKuang ZhengCao LitingLi ZeminShang YingGe YingyingHu TingtingSun YongchangZhao WuliJin RongChang Chun