AI Article Synopsis
- The study aimed to investigate changes in DNA methylation in KBD patients' blood samples before they began chondroitin sulphate treatment, focusing on how these changes may impact treatment response.
- Researchers utilized advanced sequencing techniques to identify differentially methylated regions (DMRs) and associated genes, revealing significant findings about hypermethylated and hypomethylated regions linked to the treatment response.
- The results highlighted specific gene expression patterns influenced by DMRs in certain immune cells, contributing to a better understanding of how individual responses to chondroitin sulphate may differ in KBD patients.
Article Abstract
Aims: To assess the alterations in cell-specific DNA methylation associated with chondroitin sulphate response using peripheral blood collected from Kashin-Beck disease (KBD) patients before initiation of chondroitin sulphate treatment.
Methods: Peripheral blood samples were collected from KBD patients at baseline of chondroitin sulphate treatment. Methylation profiles were generated using reduced representation bisulphite sequencing (RRBS) from peripheral blood. Differentially methylated regions (DMRs) were identified using MethylKit, while DMR-related genes were defined as those annotated to the gene body or 2.2-kilobase upstream regions of DMRs. Selected DMR-related genes were further validated by quantitative reverse transcriptase polymerase chain reaction (qRT-PCR) to assess expression levels. Tensor composition analysis was performed to identify cell-specific differential DNA methylation from bulk tissue.
Results: This study revealed 21,060 hypermethylated and 44,472 hypomethylated DMRs, and 13,194 hypermethylated and 22,448 hypomethylated CpG islands for differential global methylation for chondroitin sulphate treatment response. A total of 12,666 DMR-related genes containing DMRs were identified in their promoter regions, such as (false discovery rate (FDR) = 2.11 × 10), (FDR = 7.05 × 10), and (FDR = 1.43 × 10). Additionally, and were hypermethylated in responders, while was hypomethylated in responders, all showing decreased gene expression. The patterns of cell-specific differential global methylation associated with chondroitin sulphate response were observed. Specifically, we found that DMRs located in and exhibited differential DNA methylation between responders and non-responders in granulocytes, monocytes, and B cells.
Conclusion: Our study identified cell-specific changes in DNA methylation associated with chondroitin sulphate response in KBD patients.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098597 | PMC |
| http://dx.doi.org/10.1302/2046-3758.135.BJR-2023-0271.R1 | DOI Listing |
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