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There is no treatment available.<\/jats:p>\n                  <jats:p>Allele-specific silencing by antisense oligonucleotides (ASOs) to preferentially silence the mutant transcripts has shown therapeutic promise for dominant gain-of-function genetic disorders. In this study, we validated an allele-specific ASO therapy to selectively silence mutant SPTLC1 (p.S331F) in a disease mouse model carrying a heterozygous p.S331F mutation (S331F mice).<\/jats:p>\n                  <jats:p>Gapmer ASOs, targeting the S331F variant in either 2\u2032-O-methyl (2\u2032-OMe), locked nucleic acid (LNA) or 2\u2032-O-methoxy ethyl (MOE) chemistries, were first studied in cultured mouse skin fibroblasts. The candidate ASOs in LNA or MOE were further evaluated in vivo.<\/jats:p>\n                  <jats:p>Single subcutaneous injection of ASOs into neonatal or adult S331F mice achieved over 90% mutant transcript silencing in liver and dorsal root ganglia (DRG). Weekly subcutaneous injections of LNA-ASOs, either unconjugated or conjugated with N-acetylgalactosamine (GalNAc), into S331F mice showed GalNAc-LNA-ASOs to be more efficient than unconjugated LNA-ASOs at reducing mutant transcripts in liver, DRG and sciatic nerve, without affecting wild-type transcripts. GalNAc-LNA-ASOs also resulted in significantly reduced blood levels of 1-deoxysphingoid bases (1-deoxySL), neurotoxic metabolites used as biomarkers in HSN1A patients.<\/jats:p>\n                  <jats:p>Transcriptomic studies in DRG demonstrated mitochondrial pathway involvement in the pathological changes observed in S331F mice. Quantitative RT-PCR confirmed the differentially expressed genes between S331F and wild-type mice. Furthermore, these aberrantly expressed genes in S331F mice were reversed by GalNAc-LNA-ASO treatment. Our data provide necessary in vivo evidence as proof of concept for ASO-mediated mutant-allele-specific silencing as a therapeutic approach for SPTLC1-related HSN1.<\/jats:p>","DOI":"10.1093\/brain\/awaf403","type":"journal-article","created":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T11:33:11Z","timestamp":1761046391000},"page":"2059-2071","source":"Crossref","is-referenced-by-count":0,"title":["Antisense oligonucleotides reverse SPTLC1-related hereditary sensory neuropathy in a mouse model"],"prefix":"10.1093","volume":"149","author":[{"given":"Jinhong","family":"Meng","sequence":"first","affiliation":[{"name":"Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London , London WC1N 1EH ,","place":["UK"]},{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health , London WC1N 1EH 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