Monozygotic twins discordant for juvenile dermatomyositis: clinical, serological and gene expression studies
Abstract Background Juvenile Dermatomyositis (JDM) is a rare pediatric autoimmune disease involving a combination of environmental and genetic susceptibility factors. Monozygotic twins provide a unique opportunity to examine disease-specific gene expression as they share the same DNA. The goal of th...
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BMC
2025-03-01
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| Series: | Pediatric Rheumatology Online Journal |
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| Online Access: | https://doi.org/10.1186/s12969-025-01082-7 |
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| author | Lauren M. Pachman Amer Khojah Gabrielle Morgan Wilfredo Marin Judith James Sabah Kadri Kai Lee Yap |
| author_facet | Lauren M. Pachman Amer Khojah Gabrielle Morgan Wilfredo Marin Judith James Sabah Kadri Kai Lee Yap |
| author_sort | Lauren M. Pachman |
| collection | DOAJ |
| description | Abstract Background Juvenile Dermatomyositis (JDM) is a rare pediatric autoimmune disease involving a combination of environmental and genetic susceptibility factors. Monozygotic twins provide a unique opportunity to examine disease-specific gene expression as they share the same DNA. The goal of this study is to characterize gene expression differences between monozygotic twins discordant for JDM. Methods Five pairs of monozygotic twins were included. Each twin set was discordant for JDM. Detailed clinical and laboratory assessments were performed at enrollment. Nailfold capillary end row loops (ERL) count was obtained for all study subjects. Serum levels of cytokines and chemokines were measured using the Meso Scale Discovery® technique. Three pairs of twins had their peripheral blood mononuclear cells (PBMCs) tested by RNASeq. Results The JDM twin had significantly lower nailfold capillary ERL than the healthy control, and two non-JDM twins also had decreased ERL In addition, serum endoglin was significantly lower in both JDM and non-JDM twins than in the healthy control. RNASeq identified four genes differentially expressed between the JDM and non-JDM twins: DCD, KRT14, COL1A1, and COL3A1. Conclusions JDM twins (and two of the non-JDM twins) had significantly lower nailfold capillary ERL and decreased serum endoglin levels compared to healthy controls. Further studies are needed to explore the role of the differentially expressed genes (DCD, KRT14, COL1A1, and COL3A1) in the pathophysiology of JDM. |
| format | Article |
| id | doaj-art-e5f6632360774903baea3413e5941a22 |
| institution | DOAJ |
| issn | 1546-0096 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | BMC |
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| series | Pediatric Rheumatology Online Journal |
| spelling | doaj-art-e5f6632360774903baea3413e5941a222025-08-20T02:49:29ZengBMCPediatric Rheumatology Online Journal1546-00962025-03-012311810.1186/s12969-025-01082-7Monozygotic twins discordant for juvenile dermatomyositis: clinical, serological and gene expression studiesLauren M. Pachman0Amer Khojah1Gabrielle Morgan2Wilfredo Marin3Judith James4Sabah Kadri5Kai Lee Yap6Division of Pediatric Rheumatology, Ann & Robert H. Lurie Children’s Hospital of ChicagoDepartment of Pediatrics, College of Medicine, Umm Al-Qura UniversityDivision of Pediatric Rheumatology, Ann & Robert H. Lurie Children’s Hospital of ChicagoDivision of Pediatric Rheumatology, Ann & Robert H. Lurie Children’s Hospital of ChicagoArthritis & Clinical Immunology, Oklahoma Medical Research FoundationNorthwestern University Feinberg School of MedicineNorthwestern University Feinberg School of MedicineAbstract Background Juvenile Dermatomyositis (JDM) is a rare pediatric autoimmune disease involving a combination of environmental and genetic susceptibility factors. Monozygotic twins provide a unique opportunity to examine disease-specific gene expression as they share the same DNA. The goal of this study is to characterize gene expression differences between monozygotic twins discordant for JDM. Methods Five pairs of monozygotic twins were included. Each twin set was discordant for JDM. Detailed clinical and laboratory assessments were performed at enrollment. Nailfold capillary end row loops (ERL) count was obtained for all study subjects. Serum levels of cytokines and chemokines were measured using the Meso Scale Discovery® technique. Three pairs of twins had their peripheral blood mononuclear cells (PBMCs) tested by RNASeq. Results The JDM twin had significantly lower nailfold capillary ERL than the healthy control, and two non-JDM twins also had decreased ERL In addition, serum endoglin was significantly lower in both JDM and non-JDM twins than in the healthy control. RNASeq identified four genes differentially expressed between the JDM and non-JDM twins: DCD, KRT14, COL1A1, and COL3A1. Conclusions JDM twins (and two of the non-JDM twins) had significantly lower nailfold capillary ERL and decreased serum endoglin levels compared to healthy controls. Further studies are needed to explore the role of the differentially expressed genes (DCD, KRT14, COL1A1, and COL3A1) in the pathophysiology of JDM.https://doi.org/10.1186/s12969-025-01082-7Juvenile dermatomyositisMonozygotic twinsNailfold capillaryDCDKRT14COL1A1 |
| spellingShingle | Lauren M. Pachman Amer Khojah Gabrielle Morgan Wilfredo Marin Judith James Sabah Kadri Kai Lee Yap Monozygotic twins discordant for juvenile dermatomyositis: clinical, serological and gene expression studies Pediatric Rheumatology Online Journal Juvenile dermatomyositis Monozygotic twins Nailfold capillary DCD KRT14 COL1A1 |
| title | Monozygotic twins discordant for juvenile dermatomyositis: clinical, serological and gene expression studies |
| title_full | Monozygotic twins discordant for juvenile dermatomyositis: clinical, serological and gene expression studies |
| title_fullStr | Monozygotic twins discordant for juvenile dermatomyositis: clinical, serological and gene expression studies |
| title_full_unstemmed | Monozygotic twins discordant for juvenile dermatomyositis: clinical, serological and gene expression studies |
| title_short | Monozygotic twins discordant for juvenile dermatomyositis: clinical, serological and gene expression studies |
| title_sort | monozygotic twins discordant for juvenile dermatomyositis clinical serological and gene expression studies |
| topic | Juvenile dermatomyositis Monozygotic twins Nailfold capillary DCD KRT14 COL1A1 |
| url | https://doi.org/10.1186/s12969-025-01082-7 |
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