Asymmetric expression of H19 and ADIPOQ in concave/convex paravertebral muscles is associated with severe adolescent idiopathic scoliosis
Abstract Background Adolescent idiopathic scoliosis (AIS) is the most common paediatric spinal deformity. The etiology and pathology of AIS remain unexplained, and have been reported to involve a combination of genetic and epigenetic factors. Since paravertebral muscle imbalance plays an important r...
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| Format: | Article |
| Language: | English |
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BMC
2018-09-01
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| Series: | Molecular Medicine |
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| Online Access: | http://link.springer.com/article/10.1186/s10020-018-0049-y |
| _version_ | 1811340358609534976 |
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| author | Heng Jiang Fu Yang Tao Lin Wei Shao Yichen Meng Jun Ma Ce Wang Rui Gao Xuhui Zhou |
| author_facet | Heng Jiang Fu Yang Tao Lin Wei Shao Yichen Meng Jun Ma Ce Wang Rui Gao Xuhui Zhou |
| author_sort | Heng Jiang |
| collection | DOAJ |
| description | Abstract Background Adolescent idiopathic scoliosis (AIS) is the most common paediatric spinal deformity. The etiology and pathology of AIS remain unexplained, and have been reported to involve a combination of genetic and epigenetic factors. Since paravertebral muscle imbalance plays an important role in the onset and progression of scoliosis, we aimed to investigate transcriptomic differences by RNA-seq and identify significantly differentially expressed transcripts in two sides of paravertebral muscle in AIS. Methods RNA-seq was performed on 5 pairs of paravertebral muscle from 5 AIS patients. Significantly differentially expressed transcripts were validated by quantitative reverse polymerase chain reaction. Gene expression difference was correlated to clinical characteristics. Results We demonstrated that ADIPOQ mRNA and H19 is significantly differentially expressed between two sides of paravertebral muscle, relatively specific in the context of AIS. Relatively low H19 and high ADIPOQ mRNA expression levels in concave-sided muscle are associated with larger spinal curve and earlier age at initiation. We identified miR-675-5p encoded by H19 as a mechanistic regulator of ADIPOQ expression in AIS. We demonstrated that significantly reduced CCCTC-binding factor (CCTF) occupancy in the imprinting control region (ICR) of the H19 gene in the concave-sided muscle contributes to down-regulated H19 expression. Conclusions RNA-seq revealed transcriptomic differences between two sides of paravertebral muscle in AIS patients. Our findings imply that transcriptomic differences caused by epigenetic factors in affected individuals may account for the structural and functional imbalance of paravertebral muscle, which can expand our etiologic understanding of this disease. |
| first_indexed | 2024-04-13T18:40:51Z |
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| institution | Directory Open Access Journal |
| issn | 1076-1551 1528-3658 |
| language | English |
| last_indexed | 2024-04-13T18:40:51Z |
| publishDate | 2018-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Medicine |
| spelling | doaj.art-78aceebadec44c388203219742712f802022-12-22T02:34:43ZengBMCMolecular Medicine1076-15511528-36582018-09-0124111210.1186/s10020-018-0049-yAsymmetric expression of H19 and ADIPOQ in concave/convex paravertebral muscles is associated with severe adolescent idiopathic scoliosisHeng Jiang0Fu Yang1Tao Lin2Wei Shao3Yichen Meng4Jun Ma5Ce Wang6Rui Gao7Xuhui Zhou8Department of Orthopedics, Changzheng Hospital, Second Military Medical UniversityDepartment of Medical Genetics, Second Military Medical UniversityDepartment of Orthopedics, Changzheng Hospital, Second Military Medical UniversityDepartment of Orthopedics, Changzheng Hospital, Second Military Medical UniversityDepartment of Orthopedics, Changzheng Hospital, Second Military Medical UniversityDepartment of Orthopedics, Changzheng Hospital, Second Military Medical UniversityDepartment of Orthopedics, Changzheng Hospital, Second Military Medical UniversityDepartment of Orthopedics, Changzheng Hospital, Second Military Medical UniversityDepartment of Orthopedics, Changzheng Hospital, Second Military Medical UniversityAbstract Background Adolescent idiopathic scoliosis (AIS) is the most common paediatric spinal deformity. The etiology and pathology of AIS remain unexplained, and have been reported to involve a combination of genetic and epigenetic factors. Since paravertebral muscle imbalance plays an important role in the onset and progression of scoliosis, we aimed to investigate transcriptomic differences by RNA-seq and identify significantly differentially expressed transcripts in two sides of paravertebral muscle in AIS. Methods RNA-seq was performed on 5 pairs of paravertebral muscle from 5 AIS patients. Significantly differentially expressed transcripts were validated by quantitative reverse polymerase chain reaction. Gene expression difference was correlated to clinical characteristics. Results We demonstrated that ADIPOQ mRNA and H19 is significantly differentially expressed between two sides of paravertebral muscle, relatively specific in the context of AIS. Relatively low H19 and high ADIPOQ mRNA expression levels in concave-sided muscle are associated with larger spinal curve and earlier age at initiation. We identified miR-675-5p encoded by H19 as a mechanistic regulator of ADIPOQ expression in AIS. We demonstrated that significantly reduced CCCTC-binding factor (CCTF) occupancy in the imprinting control region (ICR) of the H19 gene in the concave-sided muscle contributes to down-regulated H19 expression. Conclusions RNA-seq revealed transcriptomic differences between two sides of paravertebral muscle in AIS patients. Our findings imply that transcriptomic differences caused by epigenetic factors in affected individuals may account for the structural and functional imbalance of paravertebral muscle, which can expand our etiologic understanding of this disease.http://link.springer.com/article/10.1186/s10020-018-0049-yAdolescent idiopathic scoliosisTranscriptomeParavertebral muscleH19ADIPOQ |
| spellingShingle | Heng Jiang Fu Yang Tao Lin Wei Shao Yichen Meng Jun Ma Ce Wang Rui Gao Xuhui Zhou Asymmetric expression of H19 and ADIPOQ in concave/convex paravertebral muscles is associated with severe adolescent idiopathic scoliosis Molecular Medicine Adolescent idiopathic scoliosis Transcriptome Paravertebral muscle H19 ADIPOQ |
| title | Asymmetric expression of H19 and ADIPOQ in concave/convex paravertebral muscles is associated with severe adolescent idiopathic scoliosis |
| title_full | Asymmetric expression of H19 and ADIPOQ in concave/convex paravertebral muscles is associated with severe adolescent idiopathic scoliosis |
| title_fullStr | Asymmetric expression of H19 and ADIPOQ in concave/convex paravertebral muscles is associated with severe adolescent idiopathic scoliosis |
| title_full_unstemmed | Asymmetric expression of H19 and ADIPOQ in concave/convex paravertebral muscles is associated with severe adolescent idiopathic scoliosis |
| title_short | Asymmetric expression of H19 and ADIPOQ in concave/convex paravertebral muscles is associated with severe adolescent idiopathic scoliosis |
| title_sort | asymmetric expression of h19 and adipoq in concave convex paravertebral muscles is associated with severe adolescent idiopathic scoliosis |
| topic | Adolescent idiopathic scoliosis Transcriptome Paravertebral muscle H19 ADIPOQ |
| url | http://link.springer.com/article/10.1186/s10020-018-0049-y |
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