China
Africa
Explore chapters and articles related to this topic
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: the chromosomal region 14q32–14q32.33 is one of those subject to genomic imprinting, an epigenetic germline modification that determines differences in gene expression depending on parental origin. Uniparental disomy (UPD) describes the situation in which both homologs of a chromosome pair are inherited exclusively from one parent and results in overexpression of some genes and absence of expression of others. Consequently paternal and maternal uniparental disomy for chromosome 14 (UPD(14)pat and UPD(14)mat) cause distinct phenotypes. Among the paternally expressed genes (PEGs) are DLK1 and RTL1, while among the maternally expressed genes (MEGs) are MEG3 (or GTL2), RTL1 as (RTL1 antisense) and MEG8. Most cases of UPD14 are secondary to abnormal segregation at meiosis of a paternal Robertsonian translocation, resulting in a trisomic zygote with the subsequent loss of one of the three copies of the chromosome involved (trisomy rescue).
LINC00707 knockdown inhibits IL-1β-induced apoptosis and extracellular matrix degradation of osteoarthritis chondrocytes by the miR-330-5p/FSHR axis
Published in Immunopharmacology and Immunotoxicology, 2022
Minglei Qian, Yuanxin Shi, Wei Lu
Microarray analysis conducted by previous studies identified quite a few differentially expressed lncRNAs in OA tissues, in which lncRNAs such as H19, CTD-2574D22.4, HOTAIR, GAS5, PMS2L2, and RP11-445H22.4 are significantly upregulated [27]. Previous study also confirmed that lncRNAs associated with the IL‐1β–mediated inflammatory response in primary human OA chondrocytes that were also differentially expressed in diseased OA cartilage [11], and numerous lncRNAs display key functions in the OA pathogenesis within key inflammatory pathways For example, lncRNA SNHG1 alleviates the inflammation of IL-1β-induced OA through the activation of p38MAPK and NF-κB signaling pathway [28]. MEG8 exerts protective effects against IL-1β-induced apoptosis and inflammation of OA chondrocytes by regulating the PI3K/AKT signaling pathway [29]. Previous research indicated that LINC00707 has a significant upregulation in OA cartilage tissues [20]. Here, this study is the first to unravel the functional role of LINC00707 in OA. We also demonstrated the upregulation of LINC00707 expression in OA patients. LINC00707 silence significantly prevented chondrocyte apoptosis, senescence, inflammation in IL-1β-treated chondrocytes. Additionally, ki67, Collagen II, and Aggrecan expression were restored, and MMP3 and MMP13 expression were reduced after LINC00707 was knocked down, suggesting that LINC00707 depletion promotes IL-1β-induced chondrocyte proliferation and blocks ECM degradation.
LncRNA MEG8 sponging miR-181a-5p contributes to M1 macrophage polarization by regulating SHP2 expression in Henoch-Schonlein purpura rats
Published in Annals of Medicine, 2021
Mingyu Jiang, Jicheng Dai, Mingying Yin, Chunming Jiang, Mingyong Ren, Lin Tian
LncRNAs play a crucial role in modulating gene expression in cells and tissues. Aberrant expression of lncRNAs is associated with the development of many diseases [25]. Several studies have reported that lncRNAs may affect the expression of the target gene via miRNA sponging [26]. It has been reported that lncRNA MEG8 contributes to the epigenetic progression of epithelial-mesenchymal in both pancreatic and lung cancer cells, and suppresses the growth and migration of trophoblast cells and vascular smooth muscle cells [27,28]. Moreover, lncRNA MEG8 downregulates the expression of Smad2, Smad3, Colla1 and α-SMA, and leads to the formation of myofibroblasts, which ultimately alleviates the progression of renal fibrosis [29]. However, the molecular mechanism underlying the therapeutic effect of lncRNA MEG8 on HSP remains largely unclear. In this study, the mRNA expression of SHP2 was found to be decreased in HSP macrophages compared with control macrophages, which was consistent with the downregulated expression of lncRNA MEG8 in HSP rats. On the contrary, the expression of miRNA-181a-5p in HSP macrophages was increased compared to control macrophages. Furthermore, miRNA-181a-5p inhibition led to the upregulated expression of SHP2 and lncRNA MEG8. Collectively, our data indicate that lncRNA MEG8 sponges miRNA-181a-5p to regulate SHP2 expression in HSP rats, which represents a novel lncRNA-miRNA-mRNA regulatory network for this disease.