• Title/Summary/Keyword: Molecular diagnostics

Search Result 172, Processing Time 0.025 seconds

Inhibitory effects of hydroxygenkwanin on platelets aggregation via regulation of phosphoproteins in collagen-induced human platelets (Collagen 유도의 사람 혈소판에서 인산화 단백질 조절을 통한 hydroxygenkwanin의 혈소판 응집억제 효과)

  • Chang-Eun Park;Dong-Ha Lee
    • Journal of Applied Biological Chemistry
    • /
    • v.66
    • /
    • pp.122-127
    • /
    • 2023
  • Cardiovascular disease (CVD) is increasingly increasing as the main cause of death worldwide, and activation of platelet in vascular damage is one of the important causes of CVD. In recent, there is a growing interest in anti-thrombotic materials through platelet suppression, and efforts are being made to reduce side effects by using natural bioactive compounds. Known as one of the Flavonoids, hydroxygenkwanin (HGK) is a purified substance in Daphne Genkwa, which is known to have antibacterial, anti-inflammatory and anti-cancer effects, and has been reported to serve as an inhibitor of tissue factor that prevents thrombosis, but its anti-platelet effects and the action mechanisms is not known. In this study, we confirmed that the effects of HGK on the collagen-induced human platelets activation. HGK suppressed phosphorylation of PI3K/AKT and mitogen-activated protein kinases during platelet signaling, and reduced granule secretion in platelets such as ATP and serotonin. In addition, HGK inhibited the phosphorylation of cPLA2 and strongly undermined the production of TXA2, which is a powerful aggregation amplifier. As a result, the platelet aggregation derived by Collagen, a cohesive induced substance, was strongly suppressed by HGK to an IC50 of 86.36 µM. Therefore, HGK might be worth the antithrombotic substance that inhibits the activation and aggregation of human platelets that occur through blood vessel damage.

Comparison of Laboratory Tests Applied for Diagnosing the SARS-CoV-2 Infection (SARS-CoV-2 감염의 진단에 이용되는 검사실 테스트의 비교)

  • Lee, Chang-Gun;Lee, Dongsup
    • Korean Journal of Clinical Laboratory Science
    • /
    • v.54 no.2
    • /
    • pp.79-94
    • /
    • 2022
  • Due to the highly contagious nature and severity of the respiratory diseases caused by COVID-19, economical and accurate tests are required to better monitor and prevent the spread of this contagion. As the structural and molecular properties of SARS-CoV-2 were being revealed during the early stage of the COVID-19 pandemic, many manufacturers of COVID-19 diagnostic kits actively invested in the design, development, validation, verification, and implementation of diagnostic tests. Currently, diagnostic tests for SARS-CoV-2 are the most widely used and validated techniques for rapid antigen, and immuno-serological assays for specific IgG and IgM antibody tests and molecular diagnostic tests. Molecular diagnostic assays are the gold standard for direct detection of viral RNA in individuals suspected to be infected with SARS-CoV-2. Antibody-based serological tests are indirect tests applied to determine COVID-19 prevalence in the community and identify individuals who have obtained immunity. In the future, it is necessary to explore technical problems encountered in the early stages of global or regional outbreaks of pandemics and provide future directions for better diagnostic tests. This article evaluates the commercially available and FDA-approved molecular and immunological diagnostic assays and analyzes their performance characteristics.

Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay

  • Lee, Kyung Yeon;Shin, Eunsim
    • Clinical and Experimental Pediatrics
    • /
    • v.60 no.9
    • /
    • pp.282-289
    • /
    • 2017
  • Purpose: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. Methods: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. Results: Fifteen male and 12 female patients with a mean age of $29.3{\pm}17.6months$ were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with $M{\ddot{o}}bius$ syndrome. Conclusion: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.

Chemical Modification of Nucleic Acids toward Functional Nucleic Acid Systems

  • Venkatesan, Natarajan;Seo, Young-Jun;Bang, Eun-Kyoung;Park, Sun-Min;Lee, Yoon-Suk;Kim, Byeang-Hyean
    • Bulletin of the Korean Chemical Society
    • /
    • v.27 no.5
    • /
    • pp.613-630
    • /
    • 2006
  • Nucleic acids are virtually omnipresent; they exist in every living being. These macromolecules constitute the most important genetic storage material: the genes. Genes are conserved throughout the evolution of all living beings; they are transmitted from the parents to their offspring. Many interdisciplinary research groups are interested in modifying nucleic acids for use in a wider variety of applications. These modified oligonucleotides are used in many diverse fields, including diagnostics, detection, and therapeutics. In this account, we summarize our research efforts related to modified nucleic acid systems. First, we discuss our syntheses of modified oligonucleotides containing fluorescent tags for use as molecular probes (molecular beacons) to detect single-nucleotide polymorphisim (SNP) in nucleic acids and to distinguish between the B and Z forms of DNA. We also describe our research efforts into oligonucleotides functionalized with steroid derivatives to enhance their cell permeability, and the synthesis of several calix[4]arene-oligonucleotide conjugates possessing the ability to form defined triplexes. In addition, we have performed systematic studies to have an understanding about the functional groups necessary for a given nucleoside to behave as an organo or hydrogelator. The aggregation properties of a number of nucleoside-based phospholipids have been examined in different solvents; some of these derivatives are potential candidates for use as nucleoside-based liposomes. Finally, we also describe our research efforts toward the preparation of isoxazole- and isoxazoline-containing nucleoside derivatives and the determination of their antiviral activities.

Discovery of Urinary Biomarkers in Patients with Breast Cancer Based on Metabolomics

  • Lee, Jeongae;Woo, Han Min;Kong, Gu;Nam, Seok Jin;Chung, Bong Chul
    • Mass Spectrometry Letters
    • /
    • v.4 no.4
    • /
    • pp.59-66
    • /
    • 2013
  • A metabolomics study was conducted to identify urinary biomarkers for breast cancer, using gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-mass spectrometry (LC-MS), analyzed by principal components analysis (PCA) as well as a partial least squares-discriminant analysis (PLS-DA) for a metabolic pattern analysis. To find potential biomarkers, urine samples were collected from before- and after-mastectomy of breast cancer patients and healthy controls. Androgens, corticoids, estrogens, nucleosides, and polyols were quantitatively measured and urinary metabolic profiles were constructed through PCA and PLS-DA. The possible biomarkers were discriminated from quantified targeted metabolites with a metabolic pattern analysis and subsequent screening. We identified two biomarkers for breast cancer in urine, ${\beta}$-cortol and 5-methyl-2-deoxycytidine, which were categorized at significant levels in a student t-test (p-value < 0.05). The concentrations of these metabolites in breast cancer patients significantly increased relative to those of controls and patients after mastectomy. Biomarkers identified in this study were highly related to metabolites causing oxidative DNA damage in the endogenous metabolism. These biomarkers are not only useful for diagnostics and patient stratification but can be mapped on a biochemical chart to identify the corresponding enzyme for target identification via metabolomics.

HPV Genotyping Linear Assay Test Comparison in Cervical Cancer Patients: Implications for HPV Prevalence and Molecular Epidemiology in a Limited-resource Area in Bandung, Indonesia

  • Panigoro, Ramdan;Susanto, Herman;Novel, Sinta Sasika;Hartini, Sri;Sahiratmadja, Edhyana
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.14 no.10
    • /
    • pp.5843-5847
    • /
    • 2013
  • Background: Persistent infection with high risk human papillomavirus (hrHPV) is strongly associated with cervical cancer. Normal cervical cells may also harbor hrHPV, and detection of early hrHPV infection may minimize risk of cervical cancer development. This study aimed to compare two commercial HPV genotyping assays that may affordable for early screening in a limited-resource setting in Bandung, Indonesia. Materials and Methods: DNA from cervical biopsies with histologically confirmed as squamous cell cervical cacinoma were HPV genotyped by Linear Assay 1 (Roche Diagnostics, Mannheim, Germany) or Linear Assay 2 (Digene HPV Genotyping RH Test, Qiagen Gaithersburg, MD). In a subset of samples of each group, HPV genotype results were then compared. Results: Of 28 samples genotyped by linear assay 1, 22 (78.6%) demonstrated multiple infections with HPV-16 and other hrHPV types 18, 45 and/or 52. In another set of 38 samples genotyped by linear assay 2, 28 (68.4%) were mostly single infections by hrHPV type 16 or 18. Interestingly, 4 samples that had been tested by both kits showed discordant results. Conclusions: In a limited-resource area such as in Indonesia, country with a high prevalence of HPV infection a reliable cervical screening test in general population for early hrHPV detection is needed. Geographical variation in HPV genotyping result might have impacts for HPV prevalence and molecular epidemiology as the distribution in HPV genotypes should give clear information to assess the impact of HPV prophylactic vaccines.

Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2

  • Kim, Myung-Jin;Park, Seon Young;Chang, Hae Ryung;Jung, Eun Young;Munkhjargal, Anudari;Lim, Jong-Seok;Lee, Myeong-Sok;Kim, Yonghwan
    • BMB Reports
    • /
    • v.50 no.6
    • /
    • pp.308-317
    • /
    • 2017
  • Bone morphogenetic protein type 2 receptor (BMPR2) is one of the transforming growth $factor-{\beta}$ ($TGF-{\beta}$) superfamily receptors, performing diverse roles during embryonic development, vasculogenesis, and osteogenesis. Human BMPR2 consists of 1,038 amino acids, and contains functionally conserved extracellular, transmembrane, kinase, and C-terminal cytoplasmic domains. Bone morphogenetic proteins (BMPs) engage the tetrameric complex, composed of BMPR2 and its corresponding type 1 receptors, which initiates SMAD proteins-mediated signal transduction leading to the expression of target genes implicated in the development or differentiation of the embryo, organs and bones. In particular, genetic alterations of BMPR2 gene are associated with several clinical disorders, including representative pulmonary arterial hypertension, cancers, and metabolic diseases, thus demonstrating the physiological importance of BMPR2. In this mini review, we summarize recent findings regarding the molecular basis of BMPR2 functions in BMP signaling, and the versatile roles of BMPR2. In addition, various aspects of experimentally validated pathogenic mutations of BMPR2 and the linked human diseases will also be discussed, which are important in clinical settings for diagnostics and treatment.

Evaluation of Combined Quantification of PCA3 and AMACR Gene Expression for Molecular Diagnosis of Prostate Cancer in Moroccan Patients by RT-qPCR

  • Maane, Imane Abdellaoui;El Hadi, Hicham;Qmichou, Zineb;Al Bouzidi, Abderrahmane;Bakri, Youssef;Sefrioui, Hassan;Dakka, Nadia;Moumen, Abdeladim
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.17 no.12
    • /
    • pp.5229-5235
    • /
    • 2016
  • Prostate cancer (PCa) remains one of the most widespread and perplexing of all human malignancies. Assessment of gene expression is thought to have an important impact on cancer diagnosis, prognosis and therapeutic decisions. In this context, we explored combined expression of PCa related target genes AMACR and PCA3 in 126 formalin fixed paraffin embedded prostate tissues (FFPE) from Moroccan patients, using quantitative real time reverse transcription-PCR (RT-qPCR). This quantification required data normalization accomplished using stably expressed reference genes (RGs). A panel of twelve RG was assessed, data being analyzed using GenEx V6 based on geNorm, NormFinder and statistical methods. Accordingly, the hnRNP A1 gene was identified and selected as the most stably expressed RG for reliable and accurate gene expression quantification in prostate tissues. The ratios of both PCA3 and AMACR gene expression relative to that of the hnRNP A1 gene were calculated and the performance of each target gene for PCa diagnosis was evaluated using receiver-operating characteristics. PCA3 and AMACR mRNA quantification based on RT-qPCR may prove useful in PCa diagnosis. Of particular interesting, combining PCA3 and AMACR quantification improved PCa prediction by increasing sensitivity with retention of good specificity.

Genetic diversity analysis of Thai indigenous pig population using microsatellite markers

  • Charoensook, Rangsun;Gatphayak, Kesinee;Brenig, Bertram;Knorr, Christoph
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.32 no.10
    • /
    • pp.1491-1500
    • /
    • 2019
  • Objective: European pigs have been imported to improve the economically important traits of Thai pigs by crossbreeding and was finally completely replaced. Currently Thai indigenous pigs are particularly kept in a small population. Therefore, indigenous pigs risk losing their genetic diversity and identity. Thus, this study was conducted to perform large-scale genetic diversity and phylogenetic analyses on the many pig breeds available in Thailand. Methods: Genetic diversity and phylogenetics analyses of 222 pigs belonging to Thai native pigs (TNP), Thai wild boars (TWB), European commercial pigs, commercial crossbred pigs, and Chinese indigenous pigs were investigated by genotyping using 26 microsatellite markers. Results: The results showed that Thai pig populations had a high genetic diversity with mean total and effective ($N_e$) number of alleles of 14.59 and 3.71, respectively, and expected heterozygosity ($H_e$) across loci (0.710). The polymorphic information content per locus ranged between 0.651 and 0.914 leading to an average value above all loci of 0.789, and private alleles were found in six populations. The higher $H_e$ compared to observed heterozygosity ($H_o$) in TNP, TWB, and the commercial pigs indicated some inbreeding within a population. The Nei's genetic distance, mean $F_{ST}$ estimates, neighbour-joining tree of populations and individual, as well as multidimensional analysis indicated close genetic relationship between Thai indigenous pigs and some Chinese pigs, and they are distinctly different from European pigs. Conclusion: Our study reveals a close genetic relationship between TNP and Chinese pigs. The genetic introgression from European breeds is found in some TNP populations, and signs of genetic erosion are shown. Private alleles found in this study should be taken into consideration for the breeding program. The genetic information from this study will be a benefit for both conservation and utilization of Thai pig genetic resources.

Diagnostic Methods of Respiratory Virus Infections and Infection Control (호흡기 바이러스 감염의 진단법과 감염관리)

  • Park, Chang-Eun
    • Korean Journal of Clinical Laboratory Science
    • /
    • v.53 no.1
    • /
    • pp.11-18
    • /
    • 2021
  • Respiratory viruses (RVs) cause infections in hospital environments through direct contact with infected visitors. In infection control, it causes major problems of acquired infections in hospitals by respiratory viruses. The surveillance data derived from clinical laboratories are often used to properly allocate medical resources to hospitals and communities for treatment, consumables, and diagnostic product purchases in the institutions and public health sectors that provide health care. An early diagnosis is essential in infection with respiratory viruses, and methods that can be used in diagnostic methods using respiratory samples include virus culture, molecular diagnosis, and analysis. A microchip provides a new strategy for developing a more diverse and powerful technology called point-of-care testing. The importance of the respiratory system should be applied strictly to the infection control guidelines to ensure the occupational health and safety of health care workers. Evidence of clinical efficacy, including this study, is challenging the long-standing paradigm for infection propagation. Additional assistance will be needed for frequent tests to detect respiratory viruses in inpatients who have begun to show new respiratory symptoms indicating infections requiring efforts to control the infection.