{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE272nnn/GSE272676/"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"omics_type":["Methylation profiling"],"species":["Homo sapiens"],"gds_type":["Methylation profiling by high throughput sequencing"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE272676"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"Mechanisms Underlying the Progression of Congenital Scoliosis Involving Bone Marrow Stromal Progenitors [BiSulfite-seq]","description":"The functional contributions of individual cellular components in the bone marrow and bone microenvironment to spinal deformities in patients with congenital scoliosis (CS) remain inadequately understood. Our objective was to construct a comprehensive map of the bone-marrow stromal progenitors at a single-cell level in murine models of CS. And exploring mechanisms underlying the progression of scoliosis combining epigenomic and transcriptome analysis of bone in CS patients. Our analysis in murine models identified bone-marrow stromal progenitors to be pro-scoliosis cells. During the spinal growth stage, specific precursor cells/MSCs underwent functional reprogramming, losing their progenitor status and initiating differentiation into gliogenic, fibrotic, and osteogenic phenotypes in the phase of spinal deformities. They perform tissue repair differentiation and anti-inflammatory effect. Meanwhile, scoliosis-inducing insults, such as proneurodegenerative and proinflammatory cytokines, influenced specific precursor cells/MSCs, leading to a fate switch toward gliogenesis, extracellular matrix synthesis, and osteogenesis. These processes, in turn, contributed to the development of scoliosis through neurodegeneration, fibrosis, and disruptions in bone homeostasis. we validated neurodegeneration, fibrosis, and disruptions in bone homeostasis in clinical CS patient samples through epigenomic and transcriptome analysis and histological testing. In addition, excessive differentiation during MSC injury repair marked scoliosis progression in murine models, indicating that inflammatory and neurodegeneration are two underlying pathogenic factors contributing to spinal deformities in CS. Meanwhile, the decreased expression of Hmox1 and increased expression of SPP1 in murine models and clinical patients indicating perhaps they are potential diagnostic and therapeutic targets in CS early phase.","dates":{"publication":"2026/04/08"},"accession":"GSE272676","cross_references":{"GSM":["GSM8409020","GSM8409021","GSM8409022","GSM8409023","GSM8409024","GSM8409025","GSM8409026","GSM8409015","GSM8409016","GSM8409027","GSM8409017","GSM8409018","GSM8409019"],"GPL":["20795"],"GSE":["272676"],"taxon":["Homo sapiens"]}}