Ask about this productRelated genes to: SMN1 antibody
- Gene:
- SMN1 NIH gene
- Name:
- survival of motor neuron 1, telomeric
- Previous symbol:
- SMA@, SMA
- Synonyms:
- BCD541, SMNT, SMA1, SMA2, SMA3, GEMIN1, TDRD16A
- Chromosome:
- 5q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1996-12-12
- Date modifiied:
- 2019-04-23
Related products to: SMN1 antibody
Related articles to: SMN1 antibody
- Spinal Muscular Atrophy (SMA) is a rare autosomal recessive disorder caused by SMN1 gene mutations, resulting in muscle weakness and atrophy, respiratory failure, and death. SMA disease modifying therapies (DMTs) include the antisense oligonucleotide (ASO) nusinersen administered intrathecally, onasemnogene abeparvovec, single-dose intravenous gene replacement therapy that introduces functional SMN1 via an adeno-associated viral vector, and oral risdiplam, which modifies SMN2 splicing to increase SMN protein production. With DMTs, infants can achieve previously unattainable developmental milestones and survive beyond infancy. Prenatal carrier screening and universal newborn screening allow early identification and prompt postnatal treatment. However, with severe early-onset SMA, motor neuron loss begins in utero and irreversible damage may occur prior to treatment initiation. Therefore, fetal therapies for SMA are a focus of ongoing research. This review article focuses on current postnatal therapies, summarizes research on potential fetal therapies and their potential clinical integration, and reviews the ethical implications of fetal therapy for SMA. - Source: PubMed
Publication date: 2026/05/27
Trahan Marie-JulieArditi BrittanyBaptiste Caitlin - Spinal muscular atrophy 5q (5q SMA) is one of the most prevalent autosomal recessive disorders globally. The underlying cause of 5q SMA is attributed to variants in . To date, there are no reported cases of gene-based therapy in rare patients with 5q SMA caused by subtle variants of unknown clinical significance. We included 10 patients with the clinical manifestations of 5q SMA associated with intragenic variants in combination with a heterozygous deletion in this retrospective study. Previously reported pathogenic or likely pathogenic variants were identified (e.g., c.*3+1del, c.815A>G (p.Tyr272Cys), and c.821C>T (p.Thr274Ile)). Variants of unknown clinical significance were also found, including a recurrent, previously unreported variant c.80A>C (p.Gln27Pro). We also report detailed molecular genetic and clinical data on 9 patients with 5q SMA. In addition, we provide results from the cohort of patients with gene-based therapy, consistent with data from patients with a homozygous deletion. - Source: PubMed
Publication date: 2026/05/12
Mikhalchuk KristinaArtemieva SvetlanaZabnenkova ViktoriaAkhkiamova MariaDadali ElenaRudenskaya GalinaSparber PeterRybakova OlgaPapina YuliaMonakhova AnastasiyaShulyakova IrinaSaiko DmitriyZhiteneva SvetlanaPolyakov AlexanderShchagina Olga - In this study, we present a novel nucleic acid testing paradigm termed "amplification conversion," which decouples target recognition from amplification to create a detection platform adaptable to diverse target types. Unlike conventional target-dependent amplification or CRISPR-RPA strategies that rely on complex enzyme systems, our approach innovatively integrates proximity hybridization assay (PHA) and recombinase polymerase amplification (RPA). Crucially, the recombinase from the RPA system empowers PHA to overcome its inherent limitation, enabling specific recognition of double-stranded DNA. Concurrently, the structure-switching mechanism of PHA converts amplification from a target-specific process to a universal reporter sequence, thereby decoupling specific identification from nonspecific, template-driven amplification. This enables a one-pot, closed-tube isothermal reaction based on a shared amplification module and unified recognition mechanism. We demonstrated its suitability for the detection of diverse nucleic acid targets by successfully detecting the wild-type MTHFR gene, the MTHFR C677T mutation, and the SMN1 exon 7 deletion in clinical samples and achieving a detection limit of 0.1 ng µL (nearly 15 copies) for genomic DNA within 120 min. The method exhibited 100% concordance with clinical RT-PCR results, confirming its robust accuracy. By offering a simple, one-pot, low-cost (<$5 per test), and multiplex target-compatible solution, this amplification conversion-based RPA strategy shows significant potential for application in molecular diagnostics. - Source: PubMed
Publication date: 2026/05/26
Zhang LutanMa YuxiaoWang WenboZhang JianZhou YixiHuang YanruYao XingmeiXu LuluGe Yunsheng - Spinal muscular atrophy (SMA) results from a deficiency of the survival motor neuron (SMN) protein. Zolgensma, an adeno-associated virus (AAV)-based SMN1 gene-replacement therapy, is approved for SMA, though its long-term efficacy and safety remain uncertain. This study compares a Zolgensma-like benchmark vector with a 2nd-generation vector featuring a codon-optimized SMN1 transgene under the control of an endogenous SMN1 promoter. In SMA mice, intracerebroventricular delivery of the 2nd-generation vector improved survival and phenotypic outcomes compared with the benchmark. However, motor impairment was observed in wild-type mice 20 months post-injection with the 2nd-generation vector. Notably, cardiac thrombosis and hepatocellular carcinoma were associated with the benchmark vector, but not with the 2nd-generation vector. While AAV-related tumorigenesis appears to be species-specific to mice, these findings underscore the need for careful long‑term monitoring in patients treated with Zolgensma. - Source: PubMed
Publication date: 2026/05/23
Chen XiupengXie QingNath Sarah JTang MojiaoMa HongGünes Yasemin ÖzgürSharma TapanLiu HaoCui MengtianDu AilingLu MengjiaLiu Sophia YWassamon BoonyingXu MengyaoWu Joseph YunxiSu QinFitzgibbons Timothy PLiu JinghuaWan FangKumanan VeenaHe RanMa YijieYang JunGray-Edwards Heather LGallagher Thomas LTai Phillip W LGao GuangpingXie Jun - Spinal Muscular Atrophy (SMA) is a phenotypically heterogenous disease. The Survival Motor Neuron 2 () gene copy number can partially predict the clinical severity of SMA, with a single copy generally associated with the most severe phenotypes. The aim of this retrospective observational study was to explore the spectrum of phenotypes associated with one copy and the possible association with genotype and outcome. - Source: PubMed
Publication date: 2026/05/07
Cicala GianpaoloCapasso AnnaVilla MariannaCoratti GiorgiaArpaia ChiaraAgosto CaterinaCorti StefaniaRicci FedericaBruno ClaudioMatesanz SusanGross BriannaMendoza Daniel GuillenKuntz NancyKirschner JanberndZiegler AndreasServais LaurentAsselman Fay-Linnvan der Pol LudoCastiglioni ClaudiaNascimiento AndresTizzano Eduardo FidelMendonça Rodrigo HolandaZanoteli EdmarMunot PinkiScoto MariacristinaFinkel RichardPane MarikaTiziano Francesco DaniloMercuri Eugenio