Advances in epigenetic research of adolescent idiopathic scoliosis and congenital scoliosis

Abstract

Scoliosis is a three-dimensional structural deformity of the spine; more than 80% of scoliosis has no specific pathogenesis but is understood to be closely related to genetic, hormonal, and environmental factors. In recent years, the epigenetic alterations observed in scoliosis have been analyzed in numerous studies to determine the pathogenesis and progression of this condition, however, there is currently no comprehensive review of the epigenetic factors to date. We searched PubMed, Embase, and Web of Science databases for relative studies without language and date restrictions in March 2023. Twenty-five studies were included in this review and analyzed from the four main aspects of epigenetic alteration: DNA methylation, non-coding RNAs, histone modifications, and chromatin remodeling. The relationship between DNA methylation, non-coding RNAs, and scoliosis was considerably reported in the literature, and the corresponding related signaling pathways and novel biomarkers observed in scoliosis provide insights into innovative prevention and treatment strategies. However, the role of histone modifications is rarely reported in scoliosis, and few studies have investigated the relationship between scoliosis and chromatin remodeling. Therefore, these related fields need to be further explored to elucidate the overall effects of epigenetics in scoliosis.

Identification of Epigenetic Biomarkers of Adolescent Idiopathic Scoliosis Progression: A Workflow to Assess Local Gene Expression

“…The epigenetic signature is maintained through cell division; however, there is increasing evidence that epigenetic alterations can occur in terminally differentiated cells. Changes to the epigenome have been related to a series of pathological conditions including age-related diseases, cancer, diabetes, neurological disorders [33], and AIS [9,10].…”

“…Recent data have pointed to a putative role of epigenetics in AIS progression [9,10]. There are currently no reliable markers of AIS progression to guide therapeutic choices, despite the critical role they could play in the management of this condition, affecting 2-3% of the adolescent population [3].…”

“…Unfortunately, these associations showed low predictive capacity, and, to date, no single genetic marker or combination of genetic markers has been able to produce a valid genetic model for predicting the course of the disease. Studies on epigenetic markers of AIS progression are more recent and, despite the limited scientific evidence, results are strongly encouraging [9,10]. However, no specific markers were identified, and most of the available data were obtained on DNA from peripheral blood [11].…”

The morphological discrepancy of neuromuscular junctions between bilateral paraspinal muscles in patients with adolescent idiopathic scoliosis: A quantitative immunofluorescence assay

“…Despite decades of research, the primary cause of AIS still remained uncertain and many arguments existed. 21 , 22 Among them, paraspinal muscular abnormities and neurological deficits played important roles, but how these factors drive scoliosis and interplay with each other were complicated and perplexing. 23 The NMJ was a peripheral synapse between motoneurons and skeletal muscle fibers that was critical to control muscle contractions.…”