AI Article Synopsis
- Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones, leading to frequent fractures and various skeletal issues, with a wide severity spectrum.
- This pilot study analyzed RNA sequencing data from individuals with OI and their healthy relatives to identify differences in gene expression and signaling pathways.
- The results revealed 114 differently expressed genes, highlighting dysregulated inflammation and bone metabolism pathways, suggesting potential for further research in understanding OI and developing treatments, though larger studies are necessary for validation.
Article Abstract
Background: Osteogenesis imperfecta (OI) is a rare genetic disorder in which the patients suffer from numerous fractures, skeletal deformities and bluish sclera. The disorder ranges from a mild form to severe and lethal cases. The main objective of this pilot study was to compare the blood transcriptional landscape of OI patients with COL1A1 pathogenic variants and their healthy relatives, in order to find out different gene expression and dysregulated molecular pathways in OI.
Methods: We performed RNA sequencing analysis of whole blood in seven individuals affected with different OI severity and their five unaffected relatives from the three families. The data was analyzed using edgeR package of R Bioconductor. Functional profiling and pathway analysis of the identified differently expressed genes was performed with g:GOSt and MinePath web-based tools.
Results: We identified 114 differently expressed genes. The expression of 79 genes was up-regulated, while 35 genes were down-regulated. The functional analysis identified a presence of dysregulated interferon signaling pathways (IFI27, IFITM3, RSAD12, GBP7). Additionally, the expressions of the genes related to extracellular matrix organization, Wnt signaling, vitamin D metabolism and MAPK-ERK 1/2 pathways were also altered.
Conclusions: The current pilot study successfully captured the differential expression of inflammation and bone metabolism pathways in OI patients. This work can contribute to future research of transcriptional bloodomics in OI. Transcriptional bloodomics has a strong potential to become a major contributor to the understanding of OI pathological mechanisms, the discovery of phenotype modifying factors, and the identification of new therapeutic targets. However, further studies in bigger cohorts of OI patients are needed to confirm the findings of the current work.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7684725 | PMC |
| http://dx.doi.org/10.1186/s12920-020-00825-7 | DOI Listing |
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