Willebrand arthritis diagnosis and treatment target spot identification method, target spot and application thereof

By combining single-cell RNA sequencing and ATAC sequencing with spatial transcriptomics, key cellular subsets and regulatory factors in hemophilic arthritis were identified, solving the diagnostic and treatment challenges of hemophilic arthritis and providing effective therapeutic targets and methods.

CN122256499APending Publication Date: 2026-06-23THE FIRST AFFILIATED HOSPITAL OF SOOCHOW UNIV
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Patent Information

Application Number
CN202610338085.7
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2026-03-19
Publication Date
2026-06-23

AI Technical Summary

Technical Problem

Existing technologies are insufficient to deeply analyze the synovial and chondrocyte characteristics of hemophilic arthritis and its epigenetic pathogenic mechanisms, and there is a lack of effective diagnostic and therapeutic targets.

Method used

Using integrated single-cell RNA sequencing (scRNA-seq), single-cell ATAC sequencing (scATAC-seq), and spatial transcriptomics, we analyzed cartilage and synovial samples from patients with hemophilic arthritis and osteoarthritis to identify key cell subsets and specific regulatory transcription factors, and to determine diagnostic and therapeutic targets.

Benefits of technology

By gaining a deeper understanding of cell interactions in the microenvironment of hemophilic arthritis, NAMPT and ANGPTL4 were identified as therapeutic targets. Anti-NAMPT antibodies and anti-ANGPTL4 antibodies can effectively alleviate arthritis symptoms and inhibit cartilage degeneration.

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Abstract

The invention discloses a hemophilia arthritis diagnosis and treatment target spot identification method, a target spot and application thereof. The method comprises the following steps: acquiring cartilage and synovial membrane samples of a hemophilia arthritis patient in total knee arthroplasty; carrying out single-cell RNA sequencing, single-cell ATAC sequencing and spatial transcriptomics analysis, and determining main cell types and key cell subgroups forming the hemophilia arthritis microenvironment; identifying molecular characteristics and differentiation processes of the chondrocyte subpopulation and the synovial fibroblast subpopulation; the method comprises the following steps: determining the interaction between cells in a knee joint microenvironment of a sample, determining a specific regulation transcription factor in hemophilia arthritis through pairing epigenetic analysis, and identifying diagnosis and treatment targets of hemophilia arthritis. According to the method, cell characteristics of synovial tissues and cartilage tissues and interaction in an epigenetic pathogenic mechanism are analyzed through single-cell multi-omics integration, and potential treatment targets are identified.
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