Advances in Epigenetic Research of Adolescent Idiopathic Scoliosis and Congenital Scoliosis

Overview

Journal Front Genet

Date 2023 Aug 11

PMID 37564871

Authors

Duan Sun

Zihao Ding

Yong Hai

Yunzhong Cheng

Affiliations

Soon will be listed here.

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.

Citing Articles

Loss of Tyrosine Phosphatase Mu Promotes Scoliosis Progression Through Osteopontin-α5β1 Integrin Signaling and PIPK1γ90 Activity.

Elbakry M, Khatami N, Akoume M, Julien C, Bouhanik S, Franco A Int J Mol Sci. 2025; 26(3).

PMID: 39940812 PMC: 11816665. DOI: 10.3390/ijms26031042.

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

Zhang T, Sui W, Li B, Shao X, Deng Y, Zhang Z JOR Spine. 2024; 7(3):e1358.

PMID: 39011366 PMC: 11247395. DOI: 10.1002/jsp2.1358.

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

Neri S, Assirelli E, Manzetti M, Viroli G, Ialuna M, Traversari M Int J Mol Sci. 2024; 25(10).

PMID: 38791368 PMC: 11120692. DOI: 10.3390/ijms25105329.

References

Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D . The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome. Cell. 2003; 113(7):905-17. DOI: 10.1016/s0092-8674(03)00436-7. View

Delcuve G, Rastegar M, Davie J . Epigenetic control. J Cell Physiol. 2009; 219(2):243-50. DOI: 10.1002/jcp.21678. View

Chen H, Yang K, Zhang J, Cheuk K, Nepotchatykh E, Wang Y . Upregulation of microRNA-96-5p is associated with adolescent idiopathic scoliosis and low bone mass phenotype. Sci Rep. 2022; 12(1):9705. PMC: 9188568. DOI: 10.1038/s41598-022-12938-3. View

Iezaki T, Fukasawa K, Horie T, Park G, Robinson S, Nakaya M . The MAPK Erk5 is necessary for proper skeletogenesis involving a Smurf-Smad-Sox9 molecular axis. Development. 2018; 145(14). DOI: 10.1242/dev.164004. View

Fendri K, Patten S, Kaufman G, Zaouter C, Parent S, Grimard G . Microarray expression profiling identifies genes with altered expression in Adolescent Idiopathic Scoliosis. Eur Spine J. 2013; 22(6):1300-11. PMC: 3676547. DOI: 10.1007/s00586-013-2728-2. View

Simony A, Carreon L, H Jmark K, Kyvik K, Andersen M . Concordance Rates of Adolescent Idiopathic Scoliosis in a Danish Twin Population. Spine (Phila Pa 1976). 2016; 41(19):1503-1507. DOI: 10.1097/BRS.0000000000001681. View

Jusic A, Devaux Y . Mitochondrial noncoding RNA-regulatory network in cardiovascular disease. Basic Res Cardiol. 2020; 115(3):23. DOI: 10.1007/s00395-020-0783-5. View

Garcia-Gimenez J, Rubio-Belmar P, Peiro-Chova L, Hervas D, Gonzalez-Rodriguez D, Ibanez-Cabellos J . Circulating miRNAs as diagnostic biomarkers for adolescent idiopathic scoliosis. Sci Rep. 2018; 8(1):2646. PMC: 5805715. DOI: 10.1038/s41598-018-21146-x. View

Choe S, Kauderer S, Eliot M, Glazer K, Kingsley S, Carlson L . Air pollution, land use, and complications of pregnancy. Sci Total Environ. 2018; 645:1057-1064. DOI: 10.1016/j.scitotenv.2018.07.237. View

10.

Alvarado D, McCall K, Aferol H, Silva M, Garbow J, Spees W . Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice. Hum Mol Genet. 2011; 20(20):3943-52. PMC: 3177645. DOI: 10.1093/hmg/ddr313. View

11.

Liu G, Shen J, Chen C, Jiao Y, Li Z, Tan H . Genome-Wide Analysis of circular RNAs and validation of hsa_circ_0006719 as a potential novel diagnostic biomarker in congenital scoliosis patients. J Cell Mol Med. 2020; 24(12):7015-7022. PMC: 7299707. DOI: 10.1111/jcmm.15370. View

12.

Ishiwata S, Iizuka H, Sonoda H, Tsunoda D, Tajika Y, Chikuda H . Upregulated miR-224-5p suppresses osteoblast differentiation by increasing the expression of Pai-1 in the lumbar spine of a rat model of congenital kyphoscoliosis. Mol Cell Biochem. 2020; 475(1-2):53-62. DOI: 10.1007/s11010-020-03859-8. View

13.

van de Vondervoort I, Gordebeke P, Khoshab N, Tiesinga P, Buitelaar J, Kozicz T . Long non-coding RNAs in neurodevelopmental disorders. Front Mol Neurosci. 2014; 6:53. PMC: 3874560. DOI: 10.3389/fnmol.2013.00053. View

14.

Miranda T, Jones P . DNA methylation: the nuts and bolts of repression. J Cell Physiol. 2007; 213(2):384-90. DOI: 10.1002/jcp.21224. View

15.

Meng Y, Lin T, Liang S, Gao R, Jiang H, Shao W . Value of DNA methylation in predicting curve progression in patients with adolescent idiopathic scoliosis. EBioMedicine. 2018; 36:489-496. PMC: 6197569. DOI: 10.1016/j.ebiom.2018.09.014. View

16.

Hedequist D, Emans J . Congenital scoliosis: a review and update. J Pediatr Orthop. 2007; 27(1):106-16. DOI: 10.1097/BPO.0b013e31802b4993. View

17.

Peng Y, Wang S, Qiu G, Zhang J, Zhuang Q . Research progress on the etiology and pathogenesis of adolescent idiopathic scoliosis. Chin Med J (Engl). 2020; 133(4):483-493. PMC: 7046244. DOI: 10.1097/CM9.0000000000000652. View

18.

Liu X, Wang L, Yu B, Zhuang Q, Wang Y . Expression Signatures of Long Noncoding RNAs in Adolescent Idiopathic Scoliosis. Biomed Res Int. 2015; 2015:276049. PMC: 4569756. DOI: 10.1155/2015/276049. View

19.

Desh H, Gray S, Horton M, Raoul G, Rowlerson A, Ferri J . Molecular motor MYO1C, acetyltransferase KAT6B and osteogenetic transcription factor RUNX2 expression in human masseter muscle contributes to development of malocclusion. Arch Oral Biol. 2014; 59(6):601-7. PMC: 4049538. DOI: 10.1016/j.archoralbio.2014.03.005. View

20.

Zhang J, Chen H, Leung R, Choy K, Lam T, Ng B . Aberrant miR-145-5p/β-catenin signal impairs osteocyte function in adolescent idiopathic scoliosis. FASEB J. 2018; :fj201800281. DOI: 10.1096/fj.201800281. View