Abstract
Abstract Degenerative disc disease (DDD) is a prevalent musculoskeletal disorder characterized by the progressive degeneration of intervertebral discs, often leading to chronic low back pain and disability. While the etiology of DDD is multifactorial, genetic factors play a significant role in disease susceptibility and progression. This review provides a comprehensive overview of the genetic aspects of DDD, summarizing previously reported genes and variations associated with the disease. Through an analysis of animal studies and molecular pathways implicated in disc degeneration, including the lipid kinase phoshoinositide-3-kinase signaling pathway (PI3K-Akt), mitogen-activated protein kinase/extracellular signal-regulated kinase signaling pathway (MAPK-ERK), Wingless-related integration (Wnt)/β-catenin, Sonic Hedgehog (Shh), and mammalian target of rapamycin (mTOR) pathways, this review elucidates the intricate interplay between genetic factors and disc pathology. Several candidate genes have been identified in association with DDD, including those involved in extracellular matrix regulation, inflammation, and cell signaling. Genome-wide association studies have further expanded our understanding of the genetic architecture underlying DDD, revealing novel susceptibility loci and pathways. Animal studies utilizing genetically modified models have provided valuable insights into the molecular mechanisms driving disc degeneration and have validated the relevance of specific genetic pathways in disease pathogenesis. Understanding the genetic basis of DDD holds promise for identifying individuals at risk, developing predictive biomarkers, and informing personalized treatment approaches. Furthermore, elucidating the molecular pathways involved in disc degeneration may lead to the identification of novel therapeutic targets for DDD management. Overall, this review consolidates current knowledge on DDD genetics and pathways, providing a foundation for future research endeavors aimed at unraveling the intricate genetic mechanisms underlying this prevalent musculoskeletal disorder.
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