Severe osteoporosis with multiple spontaneous vertebral fractures in a young male carrying triple polymorphisms in the vitamin D receptor, collagen type 1, and low-density lipoprotein receptor-related peptide 5 genes

Yavropoulou, Maria P; Kollia, P.; Chatzidimitriou, Dimitrios; Samara, S.; Skoura, Lemonia; Yovos, John G.

doi:10.14310/horm.2002.1710

Cited by 4 publications

(4 citation statements)

References 39 publications

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“…In OI patients, the increased risk of fractures resulted from the decreased trabecular number, connections, trabecular thickness, bone volume, cortical thickness, and mechanical anisotropy and increased porosity ( 10 ). In addition, the deficiency of serum 25-hydroxyvitamin D is a recognized risk factor for osteoporosis and fractures ( 11 ). For this patient, the vitamin D deficiency might have contributed to bone mass loss and multiple fractures.…”

Section: Discussionmentioning

confidence: 99%

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

Chen

Wei

et al. 2023

Front. Endocrinol.

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Osteogenesis imperfecta (OI) is a hereditary skeletal dysplasia with an incidence of approximately 1:15,000 to 20,000. OI is usually caused by the mutation of COL1A1 and COL1A2, which would encode the α-chain of type I collagen. OI is clinically characterized by decreased bone mass, increased risk of bone fragility, blue sclerae, and dentinogenesis.Case presentationA 29-year-old male patient was diagnosed with right tibial plateau fracture caused by slight violence. Physical examination revealed the following: height, 140 cm; weight, 70 kg; body mass index (BMI), 35.71 kg/m2; blue sclera and barrel chest were observed. X-ray examination showed left convex deformity of the thoracic vertebrae with reduced thoracic volume. Laboratory examinations revealed a decrease in both vitamin D and blood calcium levels. Bone mineral density (BMD) was lower than the normal range. After the preoperative preparation was completed, the open reduction and internal fixation of the right tibial plateau fracture were performed. Meanwhile, whole blood samples of this OI patient and the normal control were collected for RNA transcriptome sequencing. The RNA sequence analysis revealed that there were 513 differentially expressed genes (DEGs) between this OI patient and the normal control. KEGG-enriched signaling pathways were significantly enriched in extracellular matrix (ECM)–receptor interactions.ConclusionIn this case, DEGs between this OI patient and the normal control were identified by RNA transcriptome sequencing. Moreover, the possible pathogenesis of OI was also explored, which may provide new evidence for the treatment of OI.

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Section: Discussionmentioning

confidence: 99%

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

Chen

Wei

et al. 2023

Front. Endocrinol.

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“…The Ni2+-NTA resin column was used to purify the ZIKV-E protein (14). The result of SDS-PAGE showed that the recombinant ZIKV-E protein could conjugate with Ni2+-NTA resin column, and a single target band about 67.1 kDa was purified (Figure 3, Lane 6).…”

Section: The Purification Of the Zikv-e Proteinmentioning

confidence: 99%

“…The high N-mannose side chain in E protein plays an important role on the antigenicity of viral proteins (14,15). Besides, the E protein is a kind of receptor protein, which plays an important role for host range, virulence, and cell tropism.…”

Section: Introductionmentioning

confidence: 99%

Efficient Capture and Detection of Zika Virion by Polyclonal Antibody Against Prokaryotic Recombinant Envelope Protein

Zhang

Chen

Dai

et al. 2018

Jundishapur J Microbiol

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Background: The outbreak of Zika virus (ZIKV) in many countries caused alarming numbers of babies born with microcephalus and severe neurologic disorders, however, the methods for the detection of the ZIKV are limited at present. Objectives: The aim of this study was to produce polyclonal antibody against full length envelop protein of ZIKV (ZIKV-E protein) in prokaryotic system and to evaluate its efficacy to capture ZIKV virion. Methods: The recombinant full length ZIKV-E protein was purified and then used as an immunogen to vaccinate BALB/c mice to produce polyclonal antibody. Protein A/G coated magnetic beads were coated with the polyclonal antibody to capture the ZIKV virion in the culture medium of Vero cells infected with ZIKV. The products of immunoprecipitation were further used for Western Blot, Loop-mediated isothermal amplification (LAMP), and PCR assay. Results: Western Blot and indirect immunofluorescence analysis showed that the mouse polyclonal antibody could react specifically with the native E protein in Vero cells infected with ZIKV. The results of Western Blot, Immunocaptured-LAMP (IC-LAMP), and Immunocaptured-PCR (IC-PCR) showed that polyclonal antibody of ZIKV-E recombinant protein can capture ZIKV virion specifically, however, the polyclonal antibody against the ZIKV-NS1, Shigella, and Salmonella without such a function. Conclusions: These findings may provide the basis for the development of the rapid diagnostic kits such as, IC-PCR, IC-LAMP, and sandwich ELISA. The serum virion capture activity elicited by prokaryotic expressed recombinant ZIKV-E protein may also provide a basis for further preparation of neutralizing antibody and protein subunit vaccine candidate against ZIKV.

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“…The imbalance of WNT/β-catenin signaling pathway will reduce bone mineral density (BMD) and the occurrence of osteoporosis (17). Yavropoulou, M. P. et al found that the interaction among the three single nucleotide polymorphisms in VDR, COL1A1 and LPR5 genes jointly affected osteoporosis in a young man (18).…”

Section: Introductionmentioning

confidence: 99%

A new discovery of genetic polymorphisms of important genes in WNT pathway (LPR5 and AXIN1) associated with osteoporosis susceptibility in Chinese Han population

Cui

Zhang

et al. 2021

Preprint

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Background: genetic factors play a critical role in the pathogenesis of osteoporosis. The imbalance of WNT/β-catenin will cause the occurrence of osteoporosis. LPR5 and AXIN1 play an important role in the classical Wnt/β-catenin signaling pathway. Our study was aimed to determine the association between 5 candidate single nucleotide polymorphisms (SNPs) of LPR5 or AXIN1 and osteoporosis susceptibility in Chinese Han population. Methods: the association analysis was conducted between 5 candidate SNPs and osteoporosis susceptibility among 1198 participants. Agena MassARRAY was used to genotype SNPs. The association between SNPs and osteoporosis susceptibility in different genetic models was analyzed by logistic regression analysis. Multi-factor dimension reduction (MDR) was used to analyze the interaction of SNP-SNP in the osteoporosis risk. The difference of clinical indicators under different genotypes was completed by one-way analysis of variance.Results: we found that LPR5 rs11228240, AXIN1 rs2301522 and rs9921222 were significantly associated with the osteoporosis susceptibility. The results of subgroup analysis showed that LPR5 rs11228240 (protective factor) and AXIN1 rs2301522 (risk factor) were significantly associated with the susceptibility of osteoporosis among participants who were age > 60 years, female or BMI≤24; AXIN1 rs9921222 significantly increased the risk of osteoporosis among participants with BMI≤24. The results of Haplotype analysis showed that Ars2301522Crs9921222 could increase the susceptibility of osteoporosis. We also found that LRP5 rs11228219, AXIN1 rs2301522 and rs9921222 showed a potential association with some clinical indicators of osteoporosis.Conclusion: the SNPs of LPR5 and AXIN1 which are important genes in WNT classical pathway, have a potential association with osteoporosis susceptibility in Chinese Han population.

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Severe osteoporosis with multiple spontaneous vertebral fractures in a young male carrying triple polymorphisms in the vitamin D receptor, collagen type 1, and low-density lipoprotein receptor-related peptide 5 genes

Cited by 4 publications

References 39 publications

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

Efficient Capture and Detection of Zika Virion by Polyclonal Antibody Against Prokaryotic Recombinant Envelope Protein

A new discovery of genetic polymorphisms of important genes in WNT pathway (LPR5 and AXIN1) associated with osteoporosis susceptibility in Chinese Han population

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