• Title/Summary/Keyword: COL6A

Search Result 110, Processing Time 0.028 seconds

A Case of Sporadic Ullrich Congenital Muscular Dystrophy Caused by a COL6A1 Mutation (COL6A1 돌연변이에 의해 발생한 산발성 Ullrich 병 1례)

  • Park, Young-Eun;Kim, Tae-Hyoung;Kim, Hyang-Suk;Kim, Dae-Seong
    • Annals of Clinical Neurophysiology
    • /
    • v.12 no.1
    • /
    • pp.27-31
    • /
    • 2010
  • Ullrich disease is a rare congenital muscular dystrophy, which is clinically characterized by generalized muscular weakness, distal joint hyperextensibility, proximal joint contractures, protuberant calcanei and high-arched palate. The disease is caused by collagen VI deficiency in interstitum and/or sarcolemma of skeletal muscles, for which mutations either in COL6A1, COL6A2 or COL6A3 are responsible. We report a girl who presented with symptoms typical of Ullrich disease, in whom the diagnosis was confirmed by immunohistochemistry and molecular genetic study.

Effects of human collagen α-1 type I-derived proteins on collagen synthesis and elastin production in human dermal fibroblasts

  • Hwang, Su Jin;Kim, Su Hwan;Seo, Woo-Young;Jeong, Yelin;Shin, Min Cheol;Ryu, Dongryeol;Lee, Sang Bae;Choi, Young Jin;Kim, KyeongJin
    • BMB Reports
    • /
    • v.54 no.6
    • /
    • pp.329-334
    • /
    • 2021
  • Collagen type I is the most abundant form of collagen in human tissues, and is composed of two identical α-1 type I chains and an α-2 type I chain organized in a triple helical structure. A previous study has shown that human collagen α-2 type I (hCOL1A2) promotes collagen synthesis, wound healing, and elastin production in normal human dermal fibroblasts (HDFs). However, the biological effects of human collagen α-1 type I (hCOL1A1) on various skin properties have not been investigated. Here, we isolate and identify the hCOL1A1-collagen effective domain (CED) which promotes collagen type I synthesis. Recombinant hCOL1A1-CED effectively induces cell proliferation and collagen biosynthesis in HDFs, as well as increased cell migration and elastin production. Based on these results, hCOL1A1-CED may be explored further for its potential use as a preventative agent against skin aging.

Cytotoxic Activities of Indigenous Plant Extracts in Cultured Human Cancer Cells

  • Min, Hye-Young;Park, Hyen-Joo;Kim, Young-Leem;Lee, Eun-Jin;Hwang, Hye-Jin;Park, Eun-Jung;Lee, Sang-Kook
    • Natural Product Sciences
    • /
    • v.8 no.4
    • /
    • pp.170-172
    • /
    • 2002
  • In continuous efforts for discovery of novel potent antitumor agents from natural products, fifty-seven methanolic extracts derived from indigenous Korean plants were primarily evaluated for in vitro cytotoxic activity in cultured human lung (A549) and colon (Col2) cancer cells. As a result, 16 plant extracts were found to be active against A549 cells and 15 extracts were active against Col2 cells in the criteria of $IC_{50}$<$50\;{\mu}g/ml$. In particular, the extracts of Calystegia soldanella $(IC_{50}$<$8.0\;{\mu}g/ml\;in\;A549;IC_{50}=27.4\;{\mu}g/ml\;in\;Col2)$, Heloniopsis orientalis $(IC_{50}=4.6\;{\mu}g/ml\;in\;A549; IC_{50}=4.5\;{\mu}g/ml\;in\;Col2)$, and Thuja koraiensis $(IC_{50}=1.2\;{\mu}g/ml\;in\;A549;IC_{50}=0.6\;{\mu}g/ml\;in\;Col2)$ showed a potent cytotoxic activity. Further study for the identification of active compounds from these lead extracts might be warranted.

The effect of local application of thymoquinone, Nigella sativa's bioactive component, on bone healing in experimental bone defects infected with Porphyromonas gingivalis

  • Batug, Ayse Yilmaz;Tomruk, Ceyda Ozcakir;Guzel Elif;Ozdemir, İlkay;Duygu, Gonca;Kutan, Esma;Ulker, Gul Merve Yalcin;Arici, Fatma Ozen
    • Journal of Periodontal and Implant Science
    • /
    • v.52 no.3
    • /
    • pp.206-219
    • /
    • 2022
  • Purpose: This study was performed to evaluate the influence of local application of thymoquinone (TQ) on bone healing in experimental bone defects infected with Porphyromonas gingivalis (PG). Methods: Forty-two female rats were randomly divided into 6 groups. A bone defect was created on the right tibia of all animals. The PG, PG/collagen membrane (COL) and PG/TQ/COL groups were infected with PG. In the COL and PG/COL groups, the defects were covered with a COL; in the TQ/COL and PG/TQ/COL groups, the defects were covered with a TQ-containing COL. After 28 days, all animals were sacrificed. Quantitative measurements of new bone formation and osteoblast lining, as well as semiquantitative measurements of capillary density and tissue response, were analyzed. Furthermore, the presence of bacterial infections in defect areas was evaluated. Results: The new bone formation, osteoblast number, and capillary density were significantly higher in the TQ groups than in the control groups (P<0.001, P<0.001, and P<0.01, respectively). In a comparison between the TQ/COL group, with a TQ-containing COL (TQ/COL), and the PG-infected TQ-containing COL (PG/TQ/COL) group, the newly formed bone and capillary density were higher in the TQ/COL group (P<0.01). When the control group was compared to the PG, PG/COL, and PG/TQ/COL groups in terms of tissue response, the differences were statistically significant (P<0.001, P=0.02, and P=0.041, respectively). The intensity of the inflammatory cell reaction was higher in the PG, PG/COL, and PG/TQ/COL groups (P<0.05). Conclusions: Within the limitations of this study, the local application of a TQ-containing COL positively affected bone healing even if the bone defects were infected. The results suggest that TQ increased angiogenesis and showed promise for accelerating bone defect healing. Further research is warranted to support these findings and reach more definitive conclusions.

Transrectal Real-time Tissue Elastography - An Effective Way to Distinguish Benign and Malignant Prostate Tumors

  • Zhang, Yan;Tang, Jie;Liang, Hai-Dong;Lv, Fa-Qin;Song, Zhi-Gang
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.4
    • /
    • pp.1831-1835
    • /
    • 2014
  • Background: To investigate the relationship between extracellular matrix parameters and texture of prostatic lesions evaluated by transrectal real-time tissue elastography (TRTE). Methods: 120 patients suspicious for prostate cancer underwent TRTE. Targeted biopsies were carried out after 12-core systematic biopsy. Epithelia were stained with hematoxylin-eosin, and Victoria blue and Ponceau S were used to stain elastic-collagen fibers, and picric acid-sirius red for visualization of collagen type I (Col1) and III (Col3). Smooth muscles were visualized by immunohistochemistry. All image analyses were performed in a blind manner using Image Pro Plus 6.0, and the area ratios of epithelium, elastic fibers, collagen fibers and Col1/Col3 were determined. Results: 42 patients with typical elastograms were included in the final data analysis. Significant differences were detected between the benign and malignant groups in the area ratios of epithelium (P = 0.01), smooth muscles and Col1/Col3 (P = 0.04, P = 0.02, respectively). There were no significant differences in the area ratios of epithelium, smooth muscle and elastic fibers between the stiff and soft lesion groups. The area ratio of Col1 was ($0.05{\pm}0.03$) in the stiff group, and ($0.02{\pm}0.01$) in the soft group (P= 0.00). However, the area ratio of Col3 was ($0.03{\pm}0.02$) in the stiff group, and ($0.05{\pm}0.04$) in the soft group (P = 0.16). Col1/Col3 in the stiff group ($1.99{\pm}1.59$) was greater than in the soft group ($0.71{\pm}0.64$) (P = 0.01). Conclusions: Tissue hardness of prostatic tumors was mainly dependent on the Col1 content, Col1/Col3 being higher in malignant than in benign lesions, so the prostate tissue texture can be used as a target for distinguishing between the two with TRTE.

Effects of the combination of bone morphogenetic protein-2 and nano-hydroxyapatite on the osseointegration of dental implants

  • Pang, KangMi;Seo, Young-Kwon;Lee, Jong-Ho
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
    • /
    • v.47 no.6
    • /
    • pp.454-464
    • /
    • 2021
  • Objectives: This study aimed to investigate the in vitro osteoinductivity of the combination of bone morphogenetic protein-2 (BMP-2) and nanohydroxyapatite (nHAp) and the in vivo effects of implants coated with nHAp/BMP-2. Materials and Methods: To evaluate the in vitro efficacy of nHAp/BMP-2 on bone formation, bone marrow-derived mesenchymal stem cells (BM-MSCs) were seeded onto titanium disks coated with collagen (Col), Col/nHAp, or Col/nHAp/BMP-2. Protein levels were determined by a biochemical assay and reverse transcriptase-polymerase chain reaction. Stem cell differentiation was analyzed by flow cytometry. For in vivo studies with mice, Col, Col/nHAp, and Col/nHAp/BMP-2 were injected in subcutaneous pockets. Titanium implants or implants coated with Col/nHAp/BMP-2 were placed bilaterally on rabbit tibias and evaluated for 4 weeks. Results: In the in vitro study, BM-MSCs on Col/nHAp/BMP-2 showed reduced levels of CD73, CD90, and CD105 and increased levels of glycosaminoglycan, osteopontin, and alkaline phosphatase activity. After 4 weeks, the Col/nHAp/BMP-2 implant showed greater bone formation than the control (P=0.07), while no differences were observed in bone implant contact and removal torque. Conclusion: These results suggest that a combination of BMP-2 and an nHAp carrier would activate osseointegration on dental implant surfaces.

Effect of Dietary Streptococcus faecium on the Performances and the Changes of Intestinal Microflora of Broiler Chicks (Streptococcus faecium의 급여가 육계의 성장과 장내 세균총 변화에 미치는 영향)

  • Kim, K.S.;Chee, K.M.;Lee, S.J.;Cho, S.K.;Kim, S.S.;Lee, W.
    • Korean Journal of Poultry Science
    • /
    • v.18 no.2
    • /
    • pp.97-119
    • /
    • 1991
  • Effect of Streptococcus faecium(SF) and an antibiotic, Colistin(Col), supplemented to diets singly or in combination, on the performances and changes of intestinal population of microflora of broiler chicks studied. A total of 252, day-old chicks(Arbor Acre) of mixed sex(M:F=1:1) were alloted into six groups. A diet with no Col and SF was referred as a control diet. The basal diets were added with two levels of SF, 0.04 and 0.08%, singly or in combination with Col 10ppm Another diet was prepared by adding only Col 10 ppm. Numbers of the microorganism in diets added with SF 0.04% and 0.08% were 7$\times$10$^{4}$ and 1.4$\times$10$^{5}$ /g diet respectively The diets consisting of corn and soybean meal as major ingredients were fed for a period of seven weeks . During the feeding trial, fresh excreta were sampled at the end of every week in a sterilized condition to count microbial changes from each dietary group. Microbial changes of large intestine were also measured from nine birds sacrificed at the end of the 4th and 7th weeks each time per dietary group. Excreta from all the groups were also collected quantitatively at the end of 3rd and 6th weeks to measure digestibility of the diets, At the end of 7th week, nine birds from each group were also sacrificed to measure weight changes of gastrointestinal tracts . Average body weight gains of broilers fed the diets added with SF 0.08% (2.37kg) or SF 0. 08%+col 10ppm(2.34kg) were significantly larger than that of the control(2.18kg). The weight gains of the other groups were not statistically different from that of the control Feed/gain ratios of the supplemental groups were better than that of control (P<0.05) except that of birds fed the diet added only with SF 0.04%. Digestibilities of nutrients such as dry matter, crude protein, crude fat and total carbohydrates were not altered by the consumption of the diets added with SF and/or Col throughout the whole feeding period. As expected, the numbers of Streptococci in the excreta from birds fed diets added with SF increased significantly with a statistical difference between groups with SF 0.04% and SF 0.08% most of the time. However. addition of Colistin to the diets supplemented with SF did not give any effects on the number of the microorganism. Numbers of coliforms in the excreta were apparently reduced by feeding the diets added with SF and/or Col(P<0.05). There were, however, no additive effects observed between the two feed additives in this regard when supplementing Col to the SF diets. Distributions of intestinal microflora exhibited exactly the same pattern as those of the excreta. Length of small intestine of the birds fed diets added with SF 0.08% with or without Col 10 ppm became significantly longer with a range of about 10% than those of the birds fed diets without SF. However, the empty weight of the small inestine of the former group was lighter than that of control These changes resulted in a significant reduction in weight/unit length of the intestine of the birds fed diets supplemented with Col and SF singly or in combination. In overall conclusion, diet added with SF 0.08% appeared most effective in improving broiler performances. Colistin added at a level of 10ppm was not beneficial at all in itself or in combination with SF in terms of broiler performances or changes of intestinal microflora population. The efficacy of SF and Col could be attributed to the changes of wall thickness of the small intestine.

  • PDF

An Experimental Study on the Effect of Cytoskeletal Changes or Osteoblastic Cell Activities (골모세포유사세포의 cytoskeletal change가 세포 활성에 미치는 영향에 관한 실험적 연구)

  • Lee, Jeong-Hwa;Nahm, Dong-Seok
    • The korean journal of orthodontics
    • /
    • v.28 no.6 s.71
    • /
    • pp.915-926
    • /
    • 1998
  • The cytoskeleton has been shown to form a network, connecting the extracelluar matrix via integrin with the nucleus and the cytoplasmic constituents of the cell. It is therefore assumed that the cytoskeleton may mediate signals generated by perturbations originating in the matrix. The purpose of this study is to examine the effect of cytoskeletal change on osteoblastic cell activities. The author cultured osteoblastic cells obtained from neonatal mouse calvaria. The cells were teated with cytochalasin B(CB) or colchicine (COL) at four concentrations for 3 hours and after another 24 hours the conditioned media was collected and assayed for prostaglandin $E_2\;(PGE_2)$, interleukin-6(IL-6), tumor necrosis factor-$\alpha$ (TNF-$\alpha$) and matrix metalloproteinase-1(MMP-1). In addition, the cytoskeletal protein actin were observed by immuno-fluorescence. The results were as follows: 1. The production of $PGE_2$ showed the tendency to be increased in CB-treated group. $PGE_2$ was increased in COL-treated group dose-dependantly, 2. IL-6 production, in CB-treated group, was increased, except at 1.0 ${\mu}g/ml$. IL-6 was induced in COL-treated group. 3. TNF-$\alpha$ production was increased in CB-treated group, except at 1.0 ${\mu}g/ml$, and in COL-treated group, that was increased. 4. The MMP-1 production was decreased in CB-treated soup and was not changed in COL-treated group, which could be selectively visualized by immunoblotting with monospecific antibody. 5. The cytoskeletal actin stress fibers were disappeared and the cells showed to be rounded in CB-treated group. These results indicated that there are a relationship between the cytoskeletal rearrangements and osteoblastic cell activities, especially in release of paracrine/autocrine factors, such as $PGE_2$, IL-6, and TNF-$\alpha$.

  • PDF

Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women

  • Bo-Young Kim;Do-Wan Kim;Eunkuk Park;Jeonghyun Kim;Chang-Gun Lee;Hyun-Seok Jin;Seon-Yong Jeong
    • Journal of Genetic Medicine
    • /
    • v.19 no.2
    • /
    • pp.63-75
    • /
    • 2022
  • Purpose: Osteoporosis is a common calcium and metabolic skeletal disease which is characterized by decreased bone mass, microarchitectural deterioration of bone tissue and impaired bone strength, thereby leading to enhanced risk of bone fragility. In this study, we aimed to identify novel genes for susceptibility to osteoporosis and/or bone density. Materials and Methods: To identify differentially expressed genes (DEGs) between control and osteoporosis-induced cells, annealing control primer-based differential display reverse-transcription polymerase chain reaction (RT-PCR) was carried out in pre-osteoblast MC3T3-E1 cells. Expression levels of the identified DEGs were evaluated by quantitative RT-PCR. Association studies for the quantitative bone density analysis and osteoporosis case-control analysis of single nucleotide polymorphism (SNPs) were performed in Korean women (3,570 subjects) from the Korean Association REsource (KARE) study cohort. Results: Comparison analysis of expression levels of the identified DEGs by quantitative RT-PCR found seven genes, Anxa6, Col5a1, Col6a2, Eno1, Myof, Nfib, and Scara5, that showed significantly different expression between the dexamethason-treated and untreated MC3T3-E1 cells and between the ovariectomized osteoporosis-induced mice and sham mice. Association studies revealed that there was a significant association between the SNPs in the five genes, ANXA6, COL5A1, ENO1, MYOF, and SCARA5, and bone density and/or osteoporosis. Conclusion: Using a whole-genome comparative expression analysis, gene expression evaluation analysis, and association analysis, we found five genes that were significantly associated with bone density and/or osteoporosis. Notably, the association P-values of the SNPs in the ANXA6 and COL5A1 genes were below the Bonferroni-corrected significance level.

Anti-aging & Skin Hydration Effects of Spore oil Extracted from Ganoderma lucidum (영지버섯에서 추출한 포자오일의 항노화 및 보습 효능)

  • Song, Hwan;Kim, Myun Soo
    • Journal of Convergence for Information Technology
    • /
    • v.10 no.5
    • /
    • pp.232-238
    • /
    • 2020
  • This study evaluated the anti-aging activity with antioxidant, anti-inflammatory and moisture activity of Ganoderma lucidum spore oil(GLS). GLS increased DPPH radical scavenging activity in a dose-dependent manners. Anti-inflammatory assay measured the inhibitory effect of GLS on NO, TNF-α and IL-6 production in LPS-stimulated RAW264.7 cells. As a result GLS inhibited NO and pro-inflammatory cytokine, TNF-α, IL-6 production. Also using human fibroblast cell to the procollagen production analysis and COL1A1 mRNA expression level analysis for defining, and for AQP-3 mRNA expression level analysis, used human keratinocyte cell. GLS increased procollagen production and COL1A1, AQP-3 mRNA expression. Our results suggest that the GLS have potential anti-inflammatory and wrinkle improves, skin moisture effect.