• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.12
• /
• pp.7261-7264
• /
• 2013

Recent genome wide sequencing has identified mutations in IDH1/IDH2 predominantly in grade II-III gliomas and secondary glioblastomas which are associated with favorable clinical outcome. These mutations have become molecular markers of significant diagnostic and prognostic relevance in the assessment of human gliomas. In the current study we evaluated IDH1 (R132) and IDH2 (R172) in 32 gliomas of various grades and tumor subtypes. Sequencing analysis revealed R132H mutations in 18.7% tumors, while none of the cases showed IDH2 (R172) mutations. The frequency of IDH1 mutations was higher in females (21.4%) than males (11.1%), and it was significantly higher in younger patients. Histological analyses demonstrated presence of necrosis and micro vascular proliferation in 69% and 75% respectively. Interestingly, IDH1 mutations were predominantly present in non-necrotic tumors as well as in cases showing microvascular proliferation. Of the six IDH1 positive cases, three were glioblastomas (IV), and one each were anaplastic oligoastrocytoma (III), anaplastic oligodendroglioma III (n=1) and diffuse astrocytoma. In conclusion, IDH1 mutations are quite frequent in Indian glioma patients while IDH2 mutations are not observed. Since IDH mutations are associated with good prognosis, their use in routine clinical practice will enable better risk stratification and management of glioma patients.

• Journal of Microbiology and Biotechnology
• /
• v.17 no.7
• /
• pp.1177-1182
• /
• 2007

Bacillus cereus group bacteria share a significant degree of genetic similarity. Thus, to differentiate and identify the Bacillus cereus group efficiently, a multiplex PCR method using the gyrB and groEL genes as diagnostic markers is suggested for simultaneous detection. The assay yielded a 400 bp amplicon for the groEL gene from all the B. cereus group bacteria, and a 253 bp amplicon from B. anthracis, 475 bp amplicon from B. cereus, 299 bp amplicon from B. thuringiensis, and 604 bp amplicon from B. mycoides for the gyrB gene. No nonspecific amplicons were observed with the DNA from 29 other pathogenic bacteria. The specificity and sensitivity of the B. cereus group identification using this multiplex PCR assay were evaluated with different kinds of food samples. In conclusion, the proposed multiplex PCR is a reliable, simple, rapid, and efficient method for the simultaneous identification of B. cereus group bacteria from food samples in a single tube.

• Advances in Traditional Medicine
• /
• v.10 no.4
• /
• pp.278-287
• /
• 2010

The present study was undertaken to evaluate the protective effect of ethanol (EtAS), ethyl acetate (EAAS) and aqueous (AQAS) extracts of Argyreia speciosa (AS) roots against Isoproterenol (ISO)-induced myocardial infarction in rats. The animals were exposed to isoproterenol (200 mg/kg. s.c) twice at an interval of 24 hrs. Cardioprotective effect was assessed by observing ECG parameters, serum marker enzymes and histopathology of the heart. Pretreatment of EAAS, and EtAS (200 mg/kg) resulted in a significant (P < 0.001) increase in P wave, QRS complex and R-R interval, whereas heart rate, QT interval and cardiac cycle were maintained near to normal values. EtAS and EAAS showed significant (P < 0.05; P < 0.001) reduction in all the tested diagnostic markers compared to ISO treated group. Histological studies on the structural changes of heart tissue supported the protective activity of AS. The result suggest that treatment of AS prior to ISO has a significant role in protecting the animals from ISO induced myocardial infarction.

• Genomics & Informatics
• /
• v.11 no.1
• /
• pp.46-51
• /
• 2013

Normal-karyotype acute myeloid leukemia (NK-AML) is a highly malignant and cytogenetically heterogeneous hematologic cancer. We searched for somatic mutations from 10 pairs of tumor and normal cells by using a highly efficient and reliable analysis workflow for whole-exome sequencing data and performed association tests between the NK-AML and somatic mutations. We identified 21 nonsynonymous single nucleotide variants (SNVs) located in a coding region of 18 genes. Among them, the SNVs of three leukemia-related genes (MUC4, CNTNAP2, and GNAS) reported in previous studies were replicated in this study. We conducted stepwise genetic risk score (GRS) models composed of the NK-AML susceptible variants and evaluated the prediction accuracy of each GRS model by computing the area under the receiver operating characteristic curve (AUC). The GRS model that was composed of five SNVs (rs75156964, rs56213454, rs6604516, rs10888338, and rs2443878) showed 100% prediction accuracy, and the combined effect of the three reported genes was validated in the current study (AUC, 0.98; 95% confidence interval, 0.92 to 1.00). Further study with large sample sizes is warranted to validate the combined effect of these somatic point mutations, and the discovery of novel markers may provide an opportunity to develop novel diagnostic and therapeutic targets for NK-AML.

• BMB Reports
• /
• v.38 no.5
• /
• pp.555-562
• /
• 2005

Single nucleotide polymorphisms (SNPs) are becoming the most common type of markers used in genetic analysis. In the present report a SNP has been chosen to test the applicability of Real Time PCR to discriminate and quantify SNPs alleles on DNA pools. Amplification Refractory Mutation System (ARMS) and Mismatch Amplification Mutation Assay (MAMA) has been applied. Each assay has been pre-validated testing specificity and performances (linearity, PCR efficiency, interference limit, limit of detection, limit of quantification, precision and accuracy). Both the approaches achieve a precise and accurate estimation of the allele frequencies on pooled DNA samples in the range from 5% to 95% and don't require standard curves or calibrators. The lowest measurement that could be significantly distinguished from the background noise has been determined around the 1% for both the approaches, allowing to extend the range of quantifications from 1% to 99%. Furthermore applicability of Real Time PCR assays for general diagnostic purposes is discussed.

• BMB Reports
• /
• v.49 no.4
• /
• pp.238-243
• /
• 2016

The efficacy of anticancer drugs depends on a variety of signaling pathways, which can be positively or negatively regulated. In this study, we show that SETDB1 HMTase is down-regulated at the transcriptional level by several anticancer drugs, due to its inherent instability. Using RNA sequence analysis, we identified FosB as being regulated by SETDB1 during anticancer drug therapy. FosB expression was increased by treatment with doxorubicin, taxol and siSETDB1. Moreover, FosB was associated with an increased rate of proliferation. Combinatory transfection of siFosB and siSETDB1 was slightly increased compared to transfection of siFosB. Furthermore, FosB was regulated by multiple kinase pathways. ChIP analysis showed that SETDB1 and H3K9me3 interact with a specific region of the FosB promoter. These results suggest that SETDB1-mediated FosB expression is a common molecular phenomenon, and might be a novel pathway responsible for the increase in cell proliferation that frequently occurs during anticancer drug therapy.

• Proceedings of the Korean Society of Crop Science Conference
• /
• 2017.06a
• /
• pp.11-11
• /
• 2017

The most drought resistant among the five most important cereal crops, and a key dual-use (grain and biomass) crop in regions containing some of the world's most degraded soils, sorghum has inherent climate resilience that is likely to become more important under environmental conditions that are projected by many climate change models. The importance of sorghum might be further elevated by the development of productive genotypes that increase the extent and duration of soil cover beyond those of conventional annual crops, mitigating or even reversing losses of ecological capital through multiple crops from single plantings. Rich genetic and genomic resources have been developed to link Sorghum phenotypic diversity to its molecular basis, and in particular the genus has become a model for dissecting the molecular control of perenniality. Nature has made Sorghum perennial at least twice, and crosses between wild perennials and cultivated sorghums show the feasibility of developing genotypes with varying degrees of investment in perenniality while still providing harvestable food, feed, sugar and/or cellulose. Genetic analysis of progeny from these crosses is revealing the hereditary basis of traits related to ratooning and perenniality and providing diagnostic DNA markers. One perennial Sorghum species has adapted to continents and latitudes far beyond the reach of its progenitors, surviving stresses year after year that are only periodically experienced by conventional (annual) sorghum, and may also harbor novel alleles that may mitigate production challenges in conventional annual sorghums.

• Journal of Korea Association of Health Promotion
• /
• v.3 no.1
• /
• pp.97-109
• /
• 2005

Chronic fatigue syndrome(CFS) is a complex, debilitating disorder characterized by at least 6 months of severe persistent of relapsing fatigue and a group of characteristic but nonspecific symptoms. Many researchers have proposed that CFS has a specific cause. However currently no evidence exists that proves either a specific cause of CFS. And there is no diagnostic test for CFS. The diagnosis of chronic fatigue syndrome is based on the patient's history, excluding other illnesses In the absence of consistent biological markers, the diagnosis of CFS arises from operational criteria that do not afford validity. The prognosis is poor and often disability and impairment of daily function and performance are prolonged. A limited understanding of the CFS has complicated the management of this disorder. Therefore, treatment of CFS may be variable and should be tailored to each patient. Therapy should include exercise, diet, good sleep hygiene, antidepressants, and other medications, depending on the patient's presentation. Regular follow-up is key to continue to exclude other medical problems and provide support for patients. Chronic fatigue syndrome is a challenging illness to manage and requires a team approach of caring providers. For the majority of patients this is a chronic illness with the goals of therapy being to improve functional status and to prevent disability. Further understanding of the etiology and pathogenesis of this illness should lead to better specific therapy.

• BMB Reports
• /
• v.41 no.10
• /
• pp.685-692
• /
• 2008

Colorectal cancer (CRC) is the third most common malignancy in the world. Because CRC develops slowly from removable precancerous lesions, detection of the disease at an early stage during regular health examinations can reduce both the incidence and mortality of the disease. Although sigmoidoscopy offers significant improvements in the detection rate of CRC, its diagnostic value is limited by its high costs and inconvenience. Therefore, there is a compelling need for the identification of noninvasive biomarkers that can enable earlier detection of CRC. Accordingly, many validation studies have been conducted to evaluate genetic, epigenetic or protein markers that can be detected in the stool or in serum. Currently, the fecal-occult blood test is the most widely used method of screening for CRC. However, advances in genomics and proteomics combined with developments in other relevant fields will lead to the discovery of novel non invasive biomarkers whose usefulness will be tested in larger validation studies. Here, non-invasive molecular biomarkers that are currently used in clinical settings and have the potential for use as CRC biomarkers are discussed.

• Childhood Kidney Diseases
• /
• v.1 no.2
• /
• pp.183-188
• /
• 1997

Familial juvenile hyperuricemic nephropathy is an autosomal dominant disease characterized by progressive renal disease and hyperuricemia or gout, affecting young people of either sex equally. There are two biochemical markers of this disorder. The first is hyperuricemia disproportionate to the degree of renal dysfunction; the second is a grossly reduced clearance of uric acid relative to creatinine, dispropotionate to age, sex and degree of renal failure. We experienced 2 family members with hyperuricemia. One family member, a 13-year-old girl who had suffered from tophaceous gout and chronic renal failure. Her younger brother also had hyperuricemia and moderately reduced renal function. Their urinary excretion fractions of uric acid($FE_{uric\;acid}$) were reduced and renal biopsy specimens showed interstitial fibrosis with tubular atrophy and interstitial urate crystal deposition. We have treated these two patients with allopurinol but we have done renal transplantation because she progressed to end stage renal disease at 16 year old age.