Identification of blood-derived candidate gene markers and a new 7-gene

Multiple sclerosis (MS), which is a chronic inflammatory disease at the central nervous system of autoimmune etiology, is characterized by varying degrees of demyelination and axonal loss. MS predominantly affects young women (between the ages of 20 and 40) and is a leading cause of disability among young adults in the United States. About 2.5 million cases have been reported all over the world, with about 400,000 taking place in the United States, moreover, the number of cases is expected to increase in the future. Multiple factors including Epstein-Barr virus (EBV) infection, Vitamin D deficiency, smoking, and a high sodium diet  all contribute to the risk of developing MS. The pathogenesis of MS involves an immune attack against central nervous system (CNS) antigens, resulting in a sustained auto-reactive T-cell Peripheral activation, Then post-activation myelin-reactive T Cells are able to penetrate the blood–brain barrier (BBB) into the central nervous system to recruit other inflammatory cells, including T cells, monocytes, and B cells. Long-term activation of microglia and macrophages will lead to destruction of myelin , and the activate resident glial cells such as microglia will cause persistent inflammation. So far, however, immunomodulator therapy and symptomatic treatment are considered as two main strategies for treating MS, but they can only improve the body functions . Several studies have shown that susceptibility to MS is genetically dependent, but the specific genetic factors remain largely unknown. Therefore, the identification of risk alleles or candidate genes that play important role in the pathogenesis of MS remains a challenge.

Biomarkers for MS can help diagnose, predict the disease course or determine the outcome of treatment response. Although biomarkers and extensive research are needed to identify them, the validation and clinical application of biomarkers in multiple sclerosis remains unmet. There is still a large gap between exploratory biomarkers proposed in many studies, proven biomarkers, and biomarkers incorporated into routine clinical practice.

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FIG: a Boxplots of overall expression levels of sample after standardization (blue: normal samples, red: MS samples). b Heatmap of DEGs in integrated microarray analysis, where the color in each rectangle represents the value of log2(foldchange), each row represents a dataset, and each column represents a gene. The gradient color from blue to red represents the change from down- to up-regulation. c Enrichment results for DEGs in the three datasets

This study used high-throughput gene expression profiles from a large cohort of MS patients to investigate the alterations of expression profiling patterns between MS patients and healthy individuals, aiming to identify potential biomarkers and to develop a diagnostic model of MS patients.

Chen, X., Hou, H., Qiao, H. et al. Identification of blood-derived candidate gene markers and a new 7-gene diagnostic model for multiple sclerosis. Biol Res 54, 12 (2021). https://doi.org/10.1186/s40659-021-00334-6

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