Single-Cell RNA Sequencing Reveals the Cellular and Molecular Characterization of Discoid Meniscus

Discoid meniscus is a morphological abnormality with a higher prevalence in Asian populations (15%-20%) compared to American populations (3%-5%). Although most patients are asymptomatic, discoid meniscus are more susceptible to injury than normal menisci. Currently, our understanding of its pathogenesis and pathophysiology remains limited. In this study, we employed single-cell RNA sequencing to analyze four cases of discoid meniscus (including three lateral and one medial) and three control meniscus samples, revealing differences in cell types and extracellular matrix composition between the two groups. Our findings indicate that the activation of BMP and HIF1A signaling pathways, along with the inactivation of the Wnt signaling pathway, may contribute to discoid meniscus development, with the transcription factor SCX identified as a key regulatory factor. These findings provide new insights into the pathogenesis of discoid meniscus and may offer a theoretical foundation for future therapeutic strategies.