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Comparative analysis of disease gene expression profiles

June 07, 2024

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Biocom Report: Researchers from the School of Medicine of Xi'an Jiaotong University, Shandong Institute of Endemic Disease Control and other departments published an article that analyzed the differentially expressed genes in peripheral blood of patients with Kashin-Beck disease and Keshan disease that occurred in the same ward The etiology and pathogenesis of the two diseases were discussed. It was pointed out that the damage of different target organs in patients with Kashin-Beck disease and Keshan disease may be caused by the interaction of common and non-common differentially expressed genes and environmental risk factors.

Kashin-Beck disease (KBD) and Keshan disease (KD) are the main endemic diseases that occur in China. The two diseases are mainly distributed in the oblique zone of low selenium environment from northeast to southwest of China, but there are also simple Of KBD or KD wards. Currently, there are more than 660,000 KBD patients and 40,000 KD patients in China. About 30 million residents live in KBD and KD wards. KBD is an endemic deformed bone and joint disease, which mainly violates children. It is characterized by deep cartilage cell necrosis, excessive apoptosis and terminal differentiation disorders. KD is an endemic cardiomyopathy, which mainly violates women and preschool children. The main feature is multifocal myocardial necrosis and fibrosis that can lead to cardiogenic shock and congestive heart failure. Due to the severe damage of articular cartilage and myocardium, most patients with KBD and KD partially or completely lose their ability to work or even take care of themselves. Seriously affect their quality of life and increase the social medical burden.

The etiology and pathogenesis of KBD and KD are still unknown. However, because the two diseases mainly occur in the same area of ​​China, similar environmental conditions exist. Therefore, some researchers have proposed a common environmental etiology hypothesis: selenium deficiency and food mycotoxin pollution.

The survey shows that the selenium content in the environment of the KBD and KD wards is low, and the residents in the wards are in a low selenium state. Their blood selenium, urine selenium, and hair selenium content are lower than those in the non-endemic areas. Poisoning, but the types of pathogenic fungi are different, that is, KBD pathogenic fungus is T-2 toxin, KD is yellow-green penicillin. Although the distribution of the two disease areas is the same, but the difference is small, but the living environment of KBD and KD patients is similar, such as life In remote rural areas with poor transportation, low economic income and simple diet.

Previously, researchers focused on the pathogenic factors of KBD and KD mainly on environmental factors. In recent years, gene expression chips have been used to analyze and find a series of abnormally expressed genes of KBD, but the results of this study have not been compared with KD. Therefore, it is still unknown whether there are common environmental factors and gene interactions in the occurrence and development of KBD and KD diseases. Comparing the differential gene expression characteristics of the two diseases may provide evidence for elucidating the mechanism of damage to different organs of KBD and KD caused by common environmental factors.

In this article, the researchers used Agilent's human 1A microarray chip to detect the gene expression profiles of peripheral blood mononuclear cells of KBD, KD and healthy controls, respectively, and used microarray data to find the same differential expression in KBD and KD case groups. Gene, the purpose is to explore and discover how common environmental factors affect the pathogenesis of the two diseases and their underlying molecular mechanisms. The obtained oligonucleotide chip data is further analyzed by quantitative real-time reverse transcription pol- ymerase chain reaction, qRT-PCR) to verify.

The researchers selected 20 patients with Kashin-Beck disease and 12 healthy controls, 16 patients with Keshan disease and 16 healthy controls residing in the co-occurring area of ​​two diseases in Shaanxi Province, China according to the national clinical diagnostic criteria for Kashin-Beck disease and Keshan disease Divided into 4 groups. The total RNA of peripheral blood mononuclear cells of cases and controls was extracted separately, and the gene expression profile was detected by single nucleotide gene microarray chip.

It was found that there were 16 identically differentially expressed genes in Kashin-Beck disease and Keshan disease, of which 9 genes were up-regulated or down-regulated in both diseases at the same time, and 7 were up-regulated and down-regulated inconsistently. Comparing the information of its toxicology genomics database shows that the expression and biological function of these genes may be affected by a variety of environmental factors, including mycotoxins and selenium levels, and mycotoxins and low selenium are considered potential environmental risk factors for the two diseases. Different target organ damage in patients with Kashin-Beck disease and Keshan disease may be caused by the interaction of common and non-common differentially expressed genes and environmental risk factors.

This study analyzed the gene expression profiles of peripheral blood mononuclear cells of KBD and KD and normal controls, compared the hypothesis and epidemiological characteristics of the environmental etiology common to the two diseases from the molecular level, and recognized the common and non-common differential expression of the two diseases Gene changes and common environmental factors interact to affect the occurrence and development of the two diseases.

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