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Kashin-Beck Disease

Kashin-Beck disease (KBD) is an endemic arthropathy, which is found in the geographic regions of low selenium content of the soil in a wide area from southwest to northeast of China, and also in Russia, North Korea and Japan. 

     The disease is characterized with several symptoms, which are related to pathological changes in the articular cartilage and growth plates, but also in the bones. The abnormalities in the bone have lead to the other name for the illness, so-called "big bone disease". The KBD patients can have severe joint pain, morning stiffness and they have deformities in the hands and limbs. In serious cases, even the growth is affected leading to a short stature. Although the disease has similar symptoms with primary osteoarthritis, there are clear differences. In contrast to osteoarthritis, KBD can attack even young children already at age of 2-3 years. While osteoarthritic changes are generally initiated by injuries at the surface of the articular cartilage followed by gradual erosion of the cartilage, KBD affects the chondrocytes at the deep zone of the articular cartilage, and those at the hypertrophic zones of growth plates (1-2).

     The basic cause of KBD is not currently known. Globally, KBD appears in geographical districts with low soil content of selenium, therefore, selenium deficiency has been associated with the disease. Contamination of cereals with fungal toxins has been also considered as a possible cause. Areas endemic for KBD have higher concentrations of mycotoxins, such as T-2 toxin, deoxynivalenol butenolide and nivalenol. Even high contents of humic acid in drinking water have been proposed as a possible factor causing KBD. However, despite increased research, no definitive cause of KBD has been possible to define so far.


     Although KBD has been considered as an environmental disease, an increasing body of evidence has accumulated supporting also a genetic impact related to a risk of KBD. In our efforts to try to understand KBD, we have more and more put  our emphasis on studies of gene expression levels in KBD patients in relation to healthy controls and osteoarthritic individuals to find key mRNAs and long-noncoding RNAs and  target networks involved with the disease (3-5). We have also analyzed the proteomic changes involved with KBD (6). Analysis of selenium-related genes at whole genome expression revealed a number of cellular components, molecular functions and biological processes involved in KBD (7). Bioinformatic analysis of gene expression profiles and nutrional trace elements uptakes of children in KBD endemic areas revealed several pathways, which may be related to the pathodological changes in juvenile KBD (8). We have also paid attention to cellular responses of fungal toxins T-2 toxin and deoxynivalenol (9,10).

     Since articular cartilage has such a poor regeneration capacity, there is a need for research tool, which do not require biopsy sampling from the patients. Induced pluripotent stem cells give potential alternative for human biopsy (11), thus, we have an ongoing project to develop a new tool for future KBD research using disease-specific stem cell line.

Related articles

  1. Guo X, Ma WJ, Zhang F, Ren FL, Qu CJ, Lammi MJ: Recent advances in the research of an endemic osteochondropathy in China: Kashin-Beck disease. Osteoarthritis Cartilage 22: 1774-1783, 2014 [Pubmed] [Full text]

  2. Guo X, Zhang F, Wang X, Wu C, Ning Y, Yu F, Younus MI, Lammi MJ, Yu J, Liu H, Cao Y: Kashin Beck Disease. In ”Endemic Disease in China”, Public Health in China Series, ed. D. Sun. People’s Medical Publishing House, Beijing, China, pp.150-211, 2017

  3. Wang WZ, Guo X, Duan C, Ma WJ, Zhang YG, Xu P, Gao ZQ, Wang ZF, Yan H, Zhang YF, Yu YX, Chen JC, Lammi MJ: Comparative analysis of gene expression profiles between the normal human cartilage and the one with endemic osteoarthritis. Osteoarthritis Cartilage 17: 83-90, 2009 [Pubmed] [Full text]

  4. Duan C, Guo X, Zhang XD, Yu HJ, Yan H, Gao Y, Ma WJ, Gao ZQ, Xu P, Lammi M: Comparative analysis of gene expression profiles between primary knee osteoarthritis and an osteoarthritis endemic to Northwestern China, Kashin-Beck disease. Arthritis Rheum 62: 771-780, 2010 [Pubmed] [Full text]

  5. Wu C, Liu H, Zhang F, Shao W, Yang L, Ning Y, Wang S, Zhao G, Lee BJ, Lammi M, Guo X: Long noncoding RNA expression profile reveals lncRNAs signature associated with extracellular matrix degradation in kashin-beck disease. Sci Rep 7: 17553, 2017 [Pubmed] [Full text]

  6. Ma WJ, Guo X, Liu JT, Liu RY, Hu JW, Sun AG, Yu YX, Lammi MJ: Proteomic changes in articular cartilage of human endemic osteoarthritis in China. Proteomics 11: 2881-2890, 2011 [Pubmed] [Full text]

  7. Wang S, Zhao G, Shao W, Liu H, Wang W, Wu C, Lammi MJ, Guo X: The importance of Se-related genes in the chondrocyte of Kashin-Beck disease revealed by whole genomic microarray and network analysis. Biol Trace Elem Res 187: 367-375, 2019 [Pubmed] [Full text]

  8. Ning Y, Wang X, Zhang P, Anatoly SV, Prakash NT, Li C, Zhou R, Lammi M, Zhang F, Guo X: Imbalance of dietary nutrients and the associated differentially expressed genes and pathways may play important roles in juvenile Kashin-Beck disease. J Trace Elem Med Biol 50: 441-460, 2018 [Pubmed] [Full text]

  9. Lei Y, Guanghui Z, Xi W, Yingting W, Xialu L, Fangfang Y, Goldring MB, Xiong G, Lammi MJ: Cellular responses to T-2 toxin and/or deoxynivalenol that induce cartilage damage are not specific to chondrocytes. Sci Rep 7: 2231, 2017 [Pubmed] [Full text]

  10. Lin X, Shao W, Yu F, Xing K, Liu H, Zhang F, Goldring MB, Lammi MJ, Guo X: Individual and combined toxicity of T-2 toxin and deoxynivalenol on human C-28/I2 and rat primary chondrocytes. J Appl Toxicol 39:343-353, 2019 [Pubmed] [Full text]

  11. Liu H, Yang L, Yu FF, Wang S, Wu C, Qu C, Lammi MJ, Guo X: The potential of induced pluripotent stem cells as a tool to study skeletal dysplasias and cartilage-related pathologic conditions. Osteoarthritis Cartilage 25:616-624, 2017 [Pubmed] [Full text]

Last updated January 23, 2019

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