Article
Genetics & Heredity
Kaidiriye Setiwalidi, Jialei Fu, He Hei, Shaniya Nuer, Feiyu Zhang, Sijie Chen, Yanli Liu, Feihong Chen, Shujin Li, Chaowei Wang, Yifan Wu, Yi Gong, Minhan Hu, Ruitian Huang, Junyi Liu, Tianxiao Zhang, Yujie Ning, Hongmou Zhao, Xiong Guo, Xi Wang
Summary: This study aimed to clarify the relationship between the differential expression of cyclins CCNB1 and CCNG1 and chondrocyte damage in Kashin-Beck disease. The results suggest that the differential expression of cyclins CCNB1 and CCNG1 may be related to articular cartilage damage in Kashin-Beck disease.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Sen Wang, Yuanji Wang, Xingyu Li, Linlin Yuan, Xiong Guo, Mikko J. Lammi
Summary: This study investigated the roles of accessible chromatin in understanding the different pathogeneses between KBD and OA. The results identified genes associated with abnormal chondrocyte function that may play crucial roles in the different processes between KBD and OA in terms of accessible chromatin.
FRONTIERS IN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Sen Wang, Lingling Geng, Guanghui Zhao, Peilin Meng, Linlin Yuan, Xiong Guo
Summary: This study found that adding selenium can affect the glycosylation level of chondrocyte glycoproteins in KBD patients, thereby influencing the pathogenesis of the disease.
BIOLOGICAL TRACE ELEMENT RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
XiaoLi Yang, ZhaoFang Li, RongQiang Zhang, Di Zhang, YongMin Xiong, Chen Wang, XueNa Yang, Qiang Li
Summary: The study revealed that the transcription profile of selenoproteins is dysregulated in patients with KBD, with downregulation of 17 selenoprotein genes and upregulation of apoptosis-related genes. The expression of GPX3, DIO1, and TXNRD1 genes may play a role in chondrocyte apoptosis by affecting antioxidant capacity. In the Se deficiency group, markers of apoptosis increased while GPX activity decreased, showing a potential link between selenium deficiency and chondrocyte apoptosis.
BIOLOGICAL TRACE ELEMENT RESEARCH
(2022)
Article
Genetics & Heredity
Yujie Ning, Minhan Hu, Jiayu Diao, Yi Gong, Ruitian Huang, Sijie Chen, Feiyu Zhang, Yanli Liu, Feihong Chen, Pan Zhang, Guanghui Zhao, Yanhai Chang, Ke Xu, Rong Zhou, Cheng Li, Feng Zhang, Mikko Lammi, Xi Wang, Xiong Guo
Summary: The genetic polymorphisms of PPARG, ADAM12, IL6, SMAD3, and TIMP2 may contribute to the risk of KBD by disturbing ECM homeostasis.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Di Zhang, Dandan Zhang, Xiaoli Yang, Qiang Li, Rongqiang Zhang, YongMin Xiong
Summary: Kashin-Beck disease (KBD) is a nutrition-related osteoarthropathy, and selenium (Se) deficiency may play a role in its development by activating the Notch/Hes1 signaling pathway and promoting excessive apoptosis of chondrocytes. This study found that KBD patients had lower plasma Se levels, and Se supplementation could reverse the oxidative injury caused by Se deficiency.
BIOLOGICAL TRACE ELEMENT RESEARCH
(2023)
Article
Engineering, Biomedical
Lichun Qiao, Abebe F. Amhare, Huan Deng, Yizhen Lv, Yan Zhao, Jiaxin Liu, Jian Lei, Liyun Wang, Mumba M. Chilufya, Jing Han
Summary: Supplementation of SeCS increased the number of living chondrocytes, improved ultrastructure, and altered the expressions of CS structure-modifying sulfotransferases, Caspase-9, and Cyt-C.
JOURNAL OF BIOMATERIALS APPLICATIONS
(2021)
Article
Cell Biology
Yue Fan, Dalong Gao, Yingang Zhang, Jiaqiang Zhu, Feng Zhang, Lu Wang, Yan Wen, Xiong Guo, Shiquan Sun
Summary: Kashin-Beck disease (KBD) and osteoarthritis (OA) exhibit significant differences in molecular mechanisms, with KBD-associated DMRs having a higher proportion than OA-associated DMRs, and genes related to cartilage/skeletal processes are enriched in skeletal system and limb-associated pathways.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Orthopedics
Dan Zhang, Xingxing Deng, Yinan Liu, Ying Zhang, Hui Wang, Meng Zhang, Qian Fang, Chengfen Yi, Xiaoru Zhao, Tianyou Ma, Cuiyan Wu, Jinghong Chen
Summary: This study investigates the expression pattern of matrix metalloproteinase-10 (MMP-10) and its contribution to endochondral osteogenesis in Kashin-Beck disease (KBD). Results show a decreased expression of MMP-10 in the growth plates of children with KBD, rats fed with an Se-deficient diet, and/or T-2 toxin exposure. Furthermore, MMP-10 knockdown disrupts chondrocyte terminal differentiation, induces chondrocyte death, and impairs endochondral osteogenesis in KBD.
Article
Cell Biology
Xi Wang, Yujie Ning, Cheng Li, Yi Gong, Ruitian Huang, Minhan Hu, Blandine Poulet, Ke Xu, Guanghui Zhao, Rong Zhou, Mikko J. Lammi, Xiong Guo
Summary: The study aimed to improve understanding of the gut microbiota structure in KBD patients and its relationship with serum metabolites, identifying significant differences in abundant genera between KBD patients and normal controls. The analysis revealed that differences in metabolite levels were associated with altered abundances of specific species, suggesting a novel interplay between gut microbiome and metabolome in KBD pathogenesis.
CELL DEATH & DISEASE
(2021)
Article
Cell Biology
Ruikun Cai, Yichao Dong, Mingxia Fang, Yuxuan Fan, Zian Cheng, Yue Zhou, Jianen Gao, Feifei Han, Changlong Guo, Xu Ma
Summary: SAPHO syndrome, a rare chronic inflammatory disease, is associated with genetic variants and pathways related to osteoclast differentiation and inflammatory reactions, providing insights into its pathogenesis and potential treatment.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Florian Schmidt, Alexander Marx, Nina Baumgarten, Marie Hebel, Martin Wegner, Manuel Kaulich, Matthias S. Leisegang, Ralf P. Brandes, Jonathan Goeke, Jilles Vreeken, Marcel H. Schulz
Summary: STITCHIT is a novel approach to dissect epigenetic variation in a gene-specific manner for the detection of regulatory elements (REMs) without relying on peak calls in individual samples, leading to a more accurate and refined REM detection compared to standard methods across multiple samples. The approach also predicts thousands of putative REMs, suggesting a large portion of the regulome might be uncharted water.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Orthopedics
Meng Zhang, Wenjun Wang, Hui Wang, Yinan Liu, Zhengzheng Li, Chengfen Yi, Yawen Shi, Tianyou Ma, Jinghong Chen
Summary: This study investigated the relationship between IGF-1R expression and the pathological progression of Kashin-Beck disease (KBD). The results indicated that downregulation of IGF-1R was associated with KBD cartilage destruction, and inhibition of IGF-1R may mediate chondrocyte death and extracellular matrix degeneration related to the pathological progression of KBD.
Article
Orthopedics
Ping Li, Cuiyan Wu, Xiong Guo, Yan Wen, Li Liu, Xiao Liang, Yanan Du, Lu Zhang, Mei Ma, Shiqiang Cheng, Bolun Cheng, Sen Wang, Feng Zhang
Summary: This study aimed to uncover insights into the epigenetic modifications for Kashin-Beck disease (KBD) by integrating multiple datasets, leading to the identification of genetic control (GC) genes of DNA methylation for KBD. The results suggest that these GC genes may contribute to the erosion of cartilage in KBD, aiding in understanding the epigenetic alteration of the disease.
Article
Genetics & Heredity
Delesa Damena, Francis E. Agamah, Peter O. Kimathi, Ntumba E. Kabongo, Hundaol Girma, Wonderful T. Choga, Lemu Golassa, Emile R. Chimusa
Summary: Recent GWAS studies identified several association variants with severe malaria, but much remains unknown about the biological functions. This study systematically predicted candidate genes and pathways involved in severe malaria resistance, revealing multiple genes enriched in pathogenic pathways and higher minor allele frequencies in endemic populations compared to global populations. These findings suggest the potential for new malaria therapeutics targeting multiple protective host molecular pathways.
FRONTIERS IN GENETICS
(2021)