• Title/Summary/Keyword: phenotype

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Colon Cancer Prevention by Detection of APC Gene Mutation in a Family with Attenuated Familial Adenomatous Polyposis

  • Poovorawan, Kittiyod;Suksawatamnuay, Sirinporn;Sahakitrungruang, Chucheep;Treeprasertsuk, Sombat;Wisedopas, Naruemon;Komolmit, Piyawat;Poovorawan, Yong
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.10
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    • pp.5101-5104
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    • 2012
  • Background: Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gene. Methods: We analyzed 20 members of a family with AFAP. Clinical and endoscopic data were collected for phenotype determination. Genetic analysis was also performed by direct sequencing of the APC gene. Result: Five patients with a phenotype of AFAP were found. Endoscopic polyposis was demonstrated among the second generation with genotype mutation of the disease (age > 50 years) consistent with delayed phenotypic adenomatous polyposis in AFAP. APC gene mutation was identified in exon 4 of the APC gene, with mutation points of c.481C>T p.Q161X. Laparoscopic subtotal colectomy was performed to prevent carcinogenesis. Conclusion: A family with attenuated familial adenomatous polyposis of APC related to exon 4 mutation, c.481C>T p.Q161X, was reported and the phenotypic finding was confirmed by endoscopic examination. Genetic mutation analysis might be advantageous in AFAP for long term colon cancer prevention and management due to subtle or asymptomatic phenotype presentation in early adulthood.

Induction of heme oxygenase-1 with dietary quercetin reduces obesity-induced hepatic inflammation through macrophage phenotype switching

  • Kim, Chu-Sook;Choi, Hye-Seon;Joe, Yeonsoo;Chung, Hun Taeg;Yu, Rina
    • Nutrition Research and Practice
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    • v.10 no.6
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    • pp.623-628
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    • 2016
  • BACKGROUND/OBJECTIVES: Obesity-induced steatohepatitis accompanied by activated hepatic macrophages/Kupffer cells facilitates the progression of hepatic fibrinogenesis and exacerbates metabolic derangements such as insulin resistance. Heme oxyganase-1 (HO-1) modulates tissue macrophage phenotypes and thus is implicated in protection against inflammatory diseases. Here, we show that the flavonoid quercetin reduces obesity-induced hepatic inflammation by inducing HO-1, which promotes hepatic macrophage polarization in favor of the M2 phenotype. MATERIALS/METHODS: Male C57BL/6 mice were fed a regular diet (RD), high-fat diet (HFD), or HFD supplemented with quercetin (HF+Que, 0.5g/kg diet) for nine weeks. Inflammatory cytokines and macrophage markers were measured by ELISA and RT-PCR, respectively. HO-1 protein was measured by Western blotting. RESULTS: Quercetin supplementation decreased levels of inflammatory cytokines ($TNF{\alpha}$, IL-6) and increased that of the anti-inflammatory cytokine (IL-10) in the livers of HFD-fed mice. This was accompanied by upregulation of M2 macrophage marker genes (Arg-1, Mrc1) and downregulation of M1 macrophage marker genes ($TNF{\alpha}$, NOS2). In co-cultures of lipid-laden hepatocytes and macrophages, treatment with quercetin induced HO-1 in the macrophages, markedly suppressed expression of M1 macrophage marker genes, and reduced release of MCP-1. Moreover, these effects of quercetin were blunted by an HO-1 inhibitor and deficiency of nuclear factor E2-related factor 2 (Nrf2) in macrophages. CONCLUSIONS: Quercetin reduces obesity-induced hepatic inflammation by promoting macrophage phenotype switching. The beneficial effect of quercetin is associated with Nrf2-mediated HO-1 induction. Quercetin may be a useful dietary factor for protecting against obesity-induced steatohepatitis.

Population Dynamics and Fitness Comparison of Sensitive and Resistant Phenotypes of Botrytis cinerea to Benzimidazole, Dicarboximide, and N-phenylar-bamate Fungicides

  • Kim, Byung-Sup;Park, Eun-Woo;Cho, Kwang-Yun
    • The Plant Pathology Journal
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    • v.17 no.3
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    • pp.149-153
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    • 2001
  • A total of 2109 isolates of Botrytis cinerea were collected from infected plants fo strawberry, tomato, and cucumber in Korea from 1994 to 1996. Based on in virtotests for mycelial growth on potato-dextrose agar containing fungicides, the esolates were classified into six phenotypic groups : SSR, SRR, RSS, RRS, RSR, and RRR, representing sensitivity (S) or resistance (R) to carbendazim, procymidone, and diethofencarb. In that order the isolation frequencies of the SSR, SRR, RSS, RRS, RSR, and RRR phenotypes were 28.7, 1.1, 28.8, 39.4, 1.0, and 0.9%, respectively. Three isolates from each SSR, SRR, RSS, RRS, and RSR and an isolate of RRR phenotype were selected and evaluated for their fitness-related characteristics such as pathogenic aggressiveness, mycelial growth rate, sporulation, and sclerotial formation. Competitive abilities of the SSR, SRR, RSS, RRS, and RSR phenotypes were also compared by inculating mixtures of conidial suspensions of two phenotypes to cucumber plant, and then determining re-isolation frequencies from lesions. In general, significant differences in fitness-related characteristics, except pathogenic aggressiveness, were found not only between but also within phenotype groups. In the competitiveness tests, carbendazim-sinsitive phenotypes (SSR and SRR) were found to be more competitive than the resistant ones (RSS and RSR), whereas, the procymidone-resistant phenotypes (SRR and RRS) appeared to be more competitive than the sensitive ones (SSR, RSS, and RSR). There was no consistent dominance in competitiveness between the diethofencarb-resistant and sensitive phenotypes. The RSR phenotype was the least competitive among the five phenotypes.

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Detection of Methicillin-Resistant Staphylococcus aureus by In Vitro Enzymatic Amplification of MecA and FemA Gene (메티실린 내성 황색 포도상 구균에서 mecA, femA 유전자의 임상적 의의)

  • Park, Jung-Eun;Kim, Taek-Sun;Park, Su-Sung;Kim, Eun-Ryoung;Kim, Il-Su;Ann, Il-Young;Kim, Young-Jin;Kim, Jae-Jong;Kang, Sung-Ok;Park, Han-Ho
    • Pediatric Infection and Vaccine
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    • v.3 no.2
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    • pp.133-138
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    • 1996
  • Purpose : In the treatment of MRSA infection, rapid detection of MRSA is extremely important. The mecA gene codes the new drug resistant polypeptides called PBP2' which mediates the clinically relevant resistance to all beta-lactam antibiotics. The identical mecA gene has been found in coagulase-negative staphylococcus with the methicillin-resistant phenotype. On the other hand, the femA gene was absent from coagulase negative staphylococcus strains with the methicillin resistant phenotype. This study is aimed at early detection and definite diagnosis of MRSA. Methods : A total of 24 MRSA strains were studied. All strains were tested for antimicrobial susceptibility and purified DNA. We amplified both mecA and femA genes by PCR in 24 strains. Results : In MRSA all the 16 strains (100%) carried femA gene and 11 strains (68.7%) carried mecA gene. In contrast, in methicillin sensitive staphylococcus all the 8 strains (100%) carried femA and only 3 strains (37.5%) were detected mecA. Conclusions : As results, there are difference in the phenotype and genotype of methicillin resistance by PCR of mecA and femA. Such disparities between methicillin resistance and the presence of mecA gene suggest the presence of control gene of the mecA.

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The Researches on the Korean Population Genetics: Studies on the frequencies and distributions of some human enzyme deficient traits

  • Lee, Chung-Choo
    • The Korean Journal of Zoology
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    • v.17 no.4
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    • pp.145-158
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    • 1974
  • The present paper is concerned with the frequencies of G-6-PD deficiency acetylator phenotypes, hypocatalasemia and acatalasemia among Korean populations. The examination was carried out in the rural (Kyodong island, Moonmak Myeon and Yangyang Eup)and urban (Seoul) areas. The average frequency of G-6-PD deficiency in the total male population was 1.33%. A significant difference was observed among four areas. Tests on the color-blindness were performed in order to compara the two populations(Kyodong island and Seoul) and to obtain relationship between the color-blindness and G-6-PD deficiency. The frequency of color-blindness was 5.76% in the male rural population, and this rate was nearly consistant with that of the urban. The frequencies of the slow acetylator phenotype were 12.96% in Kyodong island, 10.36% in Seoul and 11.05% in Moonmak Myeon. Of the 3,004 persons investigated, no one has acatalasemia, but 10 cases of hypocatalasemia were found. The overall frequency was 0.33% which is slightly different from one area to another; 0.29% in Seoul, 0.27% in Kyodong island, and 1.15% in Moonmak Myeon.

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Novel Sources of Resistance to Phytophthora capsici on Pepper (Capsicum sp.) Landraces from Mexico

  • Retes-Manjarrez, Jesus Enrique;Rubio-Aragon, Walter Arturo;Marques-Zequera, Isidro;Cruz-Lachica, Isabel;Garcia-Estrada, Raymundo Saul;Sy, Ousmane
    • The Plant Pathology Journal
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    • v.36 no.6
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    • pp.600-607
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    • 2020
  • Phytophthora capsici Leonian is a major pathogen of pepper worldwide and few resistance sources to this pathogen have been identified so far. The goals of this study were to identify new sources of resistance against P. capsici in Capsicum landraces and analyze the relationship between the resistance indicator of plant symptoms and some plant phenotype parameters of plant height, stem width, leaf length and leaf width. Thirty-two landraces of pepper were collected from fourteen states in Mexico. From each population, 36 plants were inoculated with 10,000 zoospores of P. capsici under controlled conditions. This experiment was repeated twice. Out of the 32 landraces, six showed high level of resistance, four showed intermediate resistance and five showed low level of resistance when compared with the susceptible control 'Bravo' and the resistant control 'CM334', indicating that these landraces are promising novel sources of resistance to P. capsici. There was no correlation between the symptoms and plant phenotype parameters. However, these parameters were not affected in the group classified as highly resistant, indicating that P. capsici does not affect the growing of these resistant pepper landraces. The other resistant groups were significantly affected in a differently manner regarding their phenotype, indicating that this pathogen reduce their growth in different ways. This study reports novel resistance sources with great potential that could be used in breeding programs to develop new pepper cultivars with durable resistance to P. capsici.

Protoclonal variation in cabbage (Brassica oleracea ssp. capitata) (양배추 protoclone의 변이)

  • 이연희;조현석;김호일;나종현;이인원
    • Korean Journal of Plant Tissue Culture
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    • v.24 no.3
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    • pp.175-181
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    • 1997
  • Plants were regenerated from hypocotyl protoplast culture of cabbage (F$_1$hybrid Green Challenger) and were transplanted on fields. The ploidy level of regenerated and seed-grown plants was measured by flow cytometry. In total 125 regenerated plant, diploid (2n), tetraploid(4n), and mixoploid (2n+4n) were 72.8%, 25.6%, and 1.6%, respectively. Most of the regenerated plants had normal phenotype, whereas several plane showed abnormal phenotype such as heavy leaf incision, savoy, and wave. The regenerated plants with abnormal phenotype and different ploidy level were analysed by isozyme and RAPD, but no significant difference was found.

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Extracts of Aster species Inhibit Invasive Phenotype and Motility of H-ras MCF10A Human Breast Epithelial Cells Possibly via Downregulation of MMP-2 and MMP-9

  • Ahn, Seong-Min;Lee, Kang-Ro;Moon, A-Ree
    • Biomolecules & Therapeutics
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    • v.10 no.4
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    • pp.240-245
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    • 2002
  • Cancer metastasis represents the most important cause of cancer death and antitumor agents that may inhibit this process have been extensively pursued. Invasion and metastasis of malignantly transformed cells involve degradation of the extracellular matrix (ECM) components by matrix metalloproteinases (MMP), especially MMP-2 and -9. We previously showed that H-ras-induced invasive phenotype may involve MMP-2, rather than MMP-9, in MCF10A cells. In the present study, we investigated the chemopreventive effect of Aster, a widely used culinary vegetable in Korea. We screened twelve extracts from three Aster species (Aster scaber, Aster oharai and Aster glehni) for the inhibitory effect on MMP activities of H-ras MCF10A human breast epithelial cells. All of the extracts tested in this study efficiently inhibited the gelatinolytic activities of MMP-2 and MMP-9. A more prominent inhibition was observed in MMP-2 activity compared to MMP-9. Out of twelve extracts, eight extracts showed>90% inhibition of MMP-2 activity in H-ras MCF10A cells while only one extract showed>90% inhibition of MMP-9 activity. We selected three extracts (AO-3, AG-3 and AS-EA) for further studies since they exerted a marked inhibition in the ratio of MMP-2 to MMP-9. Treatment with AO-3, AG-3 and AS-EA in H-ras MCF10A cells caused a significant inhibition of invasive phenotype and migration, proving a chemopreventive potential of these extracts. Taken together, our results demonstrate that extracts of Aster effectively inhibit invasion and migration of highly malignant human breast cells, possibly via downregulation of MMP-2 and MMP-9.

Elevated extracellular calcium ions promote proliferation and migration of mesenchymal stem cells via increasing osteopontin expression

  • Lee, Mi Nam;Hwang, Hee-Su;Oh, Sin-Hye;Roshanzadeh, Amir;Kim, Jung-Woo;Song, Ju Han;Kim, Eung-Sam;Koh, Jeong-Tae
    • Experimental and Molecular Medicine
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    • v.50 no.11
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    • pp.2.1-2.16
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    • 2018
  • Supplementation of mesenchymal stem cells (MSCs) at sites of bone resorption is required for bone homeostasis because of the non-proliferation and short lifespan properties of the osteoblasts. Calcium ions ($Ca^{2+}$) are released from the bone surfaces during osteoclast-mediated bone resorption. However, how elevated extracellular $Ca^{2+}$ concentrations would alter MSCs behavior in the proximal sites of bone resorption is largely unknown. In this study, we investigated the effect of extracellular $Ca^{2+}$ on MSCs phenotype depending on $Ca^{2+}$ concentrations. We found that the elevated extracellular $Ca^{2+}$ promoted cell proliferation and matrix mineralization of MSCs. In addition, MSCs induced the expression and secretion of osteopontin (OPN), which enhanced MSCs migration under the elevated extracellular $Ca^{2+}$ conditions. We developed in vitro osteoclast-mediated bone resorption conditions using mouse calvaria bone slices and demonstrated $Ca^{2+}$ is released from bone resorption surfaces. We also showed that the MSCs phenotype, including cell proliferation and migration, changed when the cells were treated with a bone resorption-conditioned medium. These findings suggest that the dynamic changes in $Ca^{2+}$ concentrations in the microenvironments of bone remodeling surfaces modulate MSCs phenotype and thereby contribute to bone regeneration.

Mapping of the Reduced Culm Number Trait in Rice (Oryza sativa L.) rcn10(t) Mutant

  • Yeo, Un-Sang;Lee, Jong-Hee;Kim, Choon-Song;Jeon, Meong-Gi;Oh, Tae-Yong;Han, Chang-Deok;Shin, Mun-Sik;Oh, Byeong-Geun
    • Korean Journal of Breeding Science
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    • v.40 no.3
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    • pp.223-227
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    • 2008
  • In rice, tillering is an important trait determining yield. To study tillering at the agricultural and molecular aspects, we have examined a spontaneous rice mutant that showed reduction in the number of culms. The mutant was derived from a $F^6$ line of the cross of Junambyeo*4 / IR72. It could produce, on average, 4 tillers per hill in the paddy field while wild-type plants usually have 15. Except the reduced culm numbers, they also show pale green phenotypes. The phenotypes of this mutant were co-segregated as the monogenic Mendelian ratio (${\chi}^b=0.002$, p=0.969). In order to locate a gene responsible for the rcn phenotype, the mutant with the japonica genetic background was crossed with Milyang21 of the indica background. Bulked segregant analysis was used for rapid determination of chromosomal location. Three SSR markers (RM551, RM8213, and RM16467) on chromosome 4 were genetically associated with the mutant phenotype. Each of the 217 $F_2$ plants was genotyped with simple sequence length polymorphisms. The data showed that RM16572 on chromosome 4 was the closest marker that showed perfect co-segregation among the $F_2$ population. We suggest the new rcn gene studied here name as $rcn10^t$ because there was no report which exhibit a rcn phenotype with a pleiotropic effect of pale green (chlorophyll deficiency), and mapped at same position on chromosome 4.