The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome
<i>Background:</i> Adolescent idiopathic scoliosis (AIS), affecting 2–4% of adolescents, is a multifactorial spinal disease. Interactions between genetic and environmental factors can influence disease onset through epigenetic mechanisms, including DNA methylation, histone modifications...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-11-01
|
| Series: | Journal of Personalized Medicine |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2075-4426/12/11/1925 |
| _version_ | 1797464934149259264 |
|---|---|
| author | Nicola Montemurro Luca Ricciardi Alba Scerrati Giorgio Ippolito Giorgio Lofrese Sokol Trungu Andrea Stoccoro |
| author_facet | Nicola Montemurro Luca Ricciardi Alba Scerrati Giorgio Ippolito Giorgio Lofrese Sokol Trungu Andrea Stoccoro |
| author_sort | Nicola Montemurro |
| collection | DOAJ |
| description | <i>Background:</i> Adolescent idiopathic scoliosis (AIS), affecting 2–4% of adolescents, is a multifactorial spinal disease. Interactions between genetic and environmental factors can influence disease onset through epigenetic mechanisms, including DNA methylation, histone modifications and miRNA expression. Recent evidence reported that, among all clinical features in individuals with 22q11.2 deletion syndrome (DS), scoliosis can occur with a higher incidence than in the general population. <i>Methods:</i> A PubMed and Ovid Medline search was performed for idiopathic scoliosis in the setting of 22q11.2DS and miRNA according to PRISMA guidelines. <i>Results:</i> Four papers, accounting for 2841 individuals, reported clinical data about scoliosis in individuals with 22q11.2DS, showing that approximately 35.1% of the individuals with 22q11.2DS developed scoliosis. <i>Conclusions:</i> 22q11.2DS could be used as a model for the study of AIS. The <i>DGCR8</i> gene seems to be essential for microRNA biogenesis, which is why we propose that a possible common pathological mechanism between scoliosis and 22q11.2DS could be the dysregulation of microRNA expression. In the current study, we identified two miRNAs that were altered in both 22q11.2DS and AIS, miR-93 and miR-1306, thus, corroborating the hypothesis that the two diseases share common molecular alterations. |
| first_indexed | 2024-03-09T18:14:16Z |
| format | Article |
| id | doaj.art-edb64fe78de04fa4abf071f23de02e58 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-09T18:14:16Z |
| publishDate | 2022-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-edb64fe78de04fa4abf071f23de02e582023-11-24T08:54:36ZengMDPI AGJournal of Personalized Medicine2075-44262022-11-011211192510.3390/jpm12111925The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion SyndromeNicola Montemurro0Luca Ricciardi1Alba Scerrati2Giorgio Ippolito3Giorgio Lofrese4Sokol Trungu5Andrea Stoccoro6Department of Neurosurgery, Azienda Ospedaliera Universitaria Pisana (AOUP), University of Pisa, 56100 Pisa, ItalyDepartment of NESMOS, Sapienza University of Rome, 00185 Roma, ItalyDepartment of Translational Medicine, University of Ferrara, 44121 Ferrara, ItalyIstituto Chirurgico Ortopedico Traumatologico (ICOT), DSBMC Sapienza Università di Roma-Polo Pontino, 04100 Latina, ItalyDivision of Neurosurgery, Ospedale Bufalini, 47023 Cesena, ItalyDepartment of NESMOS, Sapienza University of Rome, 00185 Roma, ItalyDepartment of Translational Research and of New Surgical and Medical Technologies, University of Pisa, 56100 Pisa, Italy<i>Background:</i> Adolescent idiopathic scoliosis (AIS), affecting 2–4% of adolescents, is a multifactorial spinal disease. Interactions between genetic and environmental factors can influence disease onset through epigenetic mechanisms, including DNA methylation, histone modifications and miRNA expression. Recent evidence reported that, among all clinical features in individuals with 22q11.2 deletion syndrome (DS), scoliosis can occur with a higher incidence than in the general population. <i>Methods:</i> A PubMed and Ovid Medline search was performed for idiopathic scoliosis in the setting of 22q11.2DS and miRNA according to PRISMA guidelines. <i>Results:</i> Four papers, accounting for 2841 individuals, reported clinical data about scoliosis in individuals with 22q11.2DS, showing that approximately 35.1% of the individuals with 22q11.2DS developed scoliosis. <i>Conclusions:</i> 22q11.2DS could be used as a model for the study of AIS. The <i>DGCR8</i> gene seems to be essential for microRNA biogenesis, which is why we propose that a possible common pathological mechanism between scoliosis and 22q11.2DS could be the dysregulation of microRNA expression. In the current study, we identified two miRNAs that were altered in both 22q11.2DS and AIS, miR-93 and miR-1306, thus, corroborating the hypothesis that the two diseases share common molecular alterations.https://www.mdpi.com/2075-4426/12/11/1925scoliosis22q11.2 deletion syndromeDiGeorge syndromeadolescent idiopathic scoliosismicroRNA |
| spellingShingle | Nicola Montemurro Luca Ricciardi Alba Scerrati Giorgio Ippolito Giorgio Lofrese Sokol Trungu Andrea Stoccoro The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome Journal of Personalized Medicine scoliosis 22q11.2 deletion syndrome DiGeorge syndrome adolescent idiopathic scoliosis microRNA |
| title | The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome |
| title_full | The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome |
| title_fullStr | The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome |
| title_full_unstemmed | The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome |
| title_short | The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome |
| title_sort | potential role of dysregulated mirnas in adolescent idiopathic scoliosis and 22q11 2 deletion syndrome |
| topic | scoliosis 22q11.2 deletion syndrome DiGeorge syndrome adolescent idiopathic scoliosis microRNA |
| url | https://www.mdpi.com/2075-4426/12/11/1925 |
| work_keys_str_mv | AT nicolamontemurro thepotentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT lucaricciardi thepotentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT albascerrati thepotentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT giorgioippolito thepotentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT giorgiolofrese thepotentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT sokoltrungu thepotentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT andreastoccoro thepotentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT nicolamontemurro potentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT lucaricciardi potentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT albascerrati potentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT giorgioippolito potentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT giorgiolofrese potentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT sokoltrungu potentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome AT andreastoccoro potentialroleofdysregulatedmirnasinadolescentidiopathicscoliosisand22q112deletionsyndrome |