ORIGINAL_ARTICLE
Analysis of EGFR gene mutations in tissue samples of lung cancer tumors
Lung cancer is the leading cause of cancer deaths worldwide. Approximately 25% of nonsmall-cell lung cancers have mutations in the EGFR gene, most of which occur in hotspot regions in exons 18, 19, 20, and 21. In-frame deletions in exon 19 (~50%) and the L858R point mutation in exon 21 (~40%) are associated with a favorable response to EGFR tyrosine kinase inhibitors. In this study, mutations of two exons of 19 and 21 in 50 lung cancer tumor samples were investigated by the sequence method. From 50 lung cancer patients, 8 (16%) patients had an L858R (c.2573T>G) mutation, 6 (12%) patients had deletion type 1a mutation, and one patient had deletion type 1b mutation. Examining the sequence of candidate genes associated with lung cancer can be very important in choosing the right treatment approach.
https://www.pmjournal.ir/article_43451_3b7ae99e366ff787db6293d16a55b0ae.pdf
2020-06-01
1
4
10.22034/pmj.2020.43451
Lung cancer
EGFR gene
Sequencing
Drug resistance
TKI
Blnd
Ibrahim Mohammed
blnd.mohammed@su.edu.krd
1
Biology Department, College of Science, Salahaddin University-Erbil, Erbil, Iraq
LEAD_AUTHOR
Amir
Mohammadi
2
Department of Molecular and Cell Biology, Faculty of Basic Sciences, University of Mazandaran, Babolsar, Mazandaran
AUTHOR
Nafise
Poorhasan
nafis.p1993@gmail.com
3
Personalized Medicine Research Center of AmitisGen, Tehran, Iran
AUTHOR
Gazdar AF. Activating and resistance mutations of EGFR in non-smallcelllung cancer: role in clinical response to EGFR tyrosine kinase inhibitors.Oncogene 2009;28(Suppl 1):S24–S31.
1
Lynch TJ, Bell DW, Sordella R, et al. Activating mutations in the epidermalgrowth factor receptor underlying responsiveness of non-small-celllung cancer to gefitinib. N Engl J Med 2004;350:2129–2139.
2
Yang CH, Yu CJ, Shih JY, et al. Specific EGFR mutations predict treatmentoutcome of stage IIIB/IV patients with chemotherapy-naïve nonsmall- cell lung cancer receiving first-line gefitinib monotherapy. J ClinOncol 2008;26:2745–2753.
3
Mok TS, Wu YL, Thongprasert S, et al. Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma. N Engl J Med 2009;361:947–957.
4
Maemondo M, Inoue A, Kobayashi K, et al. Gefitinib or chemotherapy for non-small cell lung cancer with mutated EGFR. N Engl J Med 2010;362:2380–2388.
5
Mitsudomi T, Morita S, Yatabe Y, et al. Gefitinib versus cisplatin plus docetaxel in patients with non-small lung cancer harboring mutations of the epidermal growth factor receptor (WJTOG3405): an open label, randomized phase 3 trial. Lancet Oncol 2010;11:121–128.
6
Zhou C, Wu YL, Chen G, et al. Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-smallcell lung cancer (OPTIMAL, CTONG-0802): a multicentre, open-label, randomised, phase 3 study. Lancet Oncol 2011;12:735–742.
7
Rosell R, Carcereny E, Gervais R, et al. Erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive non-small-cell lung cancer (EURTAC): a multicenter, open-label, randomized phase 3 trial. Lancet Oncol 2012;13:239–246.
8
Fukuoka M, Wu YL, Thongprasert S, et al. Biomarker analyses and final overall survival results from a phase III, randomized, open-label, firstline study of gefitinib versus carboplatin/paclitaxel in clinically selected patients with advanced non-small-cell lung cancer in Asia (IPASS). J Clin Oncol 2011;29:2866–2874.
9
Han JY, Park K, Kim SW, et al. First-SIGNAL: first-line single-agent iressa versus gemcitabine and cisplatin trial in never-smokers with adenocarcinoma of the lung. J Clin Oncol 2012;30:1122–1128.
10
Chung KP, Wu SG, Wu JY, et al. Clinical outcomes in non-small cell lung cancers harboring different exon 19 deletions in EGFR. Clin Cancer Res 2012;18:3470–3477.
11
Taron M, Mayo C, de Aguirre I, et al. Outcome to erlotinib in non-small cell lung cancer patients with EGFR in-frame deletions of exon 19 according to the size of the deletion. J Clin Oncol 2010;28:15s(Suppl):Abstr 7549
12
Cancer Therapy Evaluation Program, Common Terminology Criteria forAdverse Events, Version 3at:http://ctep.cancer.gov/protocolDevelopment/ electronic_applications/docs/ctcaev3.pdf. Accessed Jan11, 2011.
13
Therasse P, Arbuck SG, Eisenhauer EA, et al. New guidelines to evaluate the response to treatment in solid tumors. European Organization for Research and Treatment of Cancer, National Cancer Institute of the United States, National Cancer Institute of Canada. J Natl Cancer Inst 2000;92:205–216.
14
Tam IY, Chung LP, Suen WS, et al. Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features. Clin Cancer Res 2006;12:1647–1653.
15
Su KY, Chen HY, Li KC, et al. Pretreatment epidermal growth factor receptor (EGFR) T790M mutation predicts shorter EGFR tyrosine kinase inhibitor response duration in patients with non-small-cell lung cancer. J Clin Oncol 2012;30:433–440.
16
Maheswaran S, Sequist LV, Nagrath S, et al. Detection of mutations in EGFR in circulating lung-cancer cells. N Engl J Med 2008;359:366–377.
17
Regales L, Balak MN, Gong Y, et al. Development of new mouse lung tumor models expressing EGFR T790M mutants associated with clinical resistance to kinase inhibitors. PLoS One 2007;2:e810.
18
Wu JY, Yu CJ, Chang YC, Yang CH, Shih JY, Yang PC. Effectiveness of tyrosine kinase inhibitors on “uncommon” epidermal growth factor receptor mutations of unknown clinical significance in non-small cell lung cancer. Clin Cancer Res 2011;17:3812–3821.
19
Schiller JH, Harrington D, Belani CP, et al; Eastern Cooperative Oncology Group. Comparison of four chemotherapy regimens for advanced nonsmall- cell lung cancer. N Engl J Med 2002;346:92–98.
20
Catalogue of Somatic Mutations in Cancer. Available at: http://www. sanger.ac.uk/genetics/CGP/cosmic/. Accessed August 1, 2012.
21
Douillard JY, Shepherd FA, Hirsh V, et al. Molecular predictors of outcome with gefitinib and docetaxel in previously treated non-small-cell lung cancer: data from the randomized phase III INTEREST trial. J Clin Oncol 2010;28:744–752.
22
ORIGINAL_ARTICLE
Comparison of different methods of DNA extraction from paraffin-embedded tissues
The most common human archival specimens are formalin-fixed and paraffin-embedded tissues. PCR-based techniques have been coupled with new developments in the extraction of DNA from FFPE. Herein, we report the results of a comparison of different methods of DNA extraction from FFPE specimens, including phenol-chloroform, salting-out, and silica-based commercial kits. Results showed no significant differences between the amounts of DNA obtained from each of the extraction methods studied; however, the salting-out DNA extraction method described is much easier and less toxic than the phenol–chloroform method.
https://www.pmjournal.ir/article_43452_f4334212cbd8e556ab18d048f5e9609f.pdf
2020-06-01
5
8
10.22034/pmj.2020.43452
paraffin-embedded tissues
DNA extraction
salting-out
phenol-chloroform
Ramadhan
Ibrahim
1
Fish Recourses and Aquatic Animals Department, College of Agriculture Salahaddin University, Erbil, Iraq
LEAD_AUTHOR
Saeed
Megdadi
megdadi1992@gmail.com
2
Department of biology, Nourdanesh institute of higher education, Meymeh, Isfahan, Iran
AUTHOR
Sareh
Bakhshandeh bavarsad
3
Department of Public Management, Faculty of Management, University of Shahrekord, Iran
AUTHOR
Najme
Shojaei
4
Personalized Medicine Research Center of AmitisGen, Tehran, Iran
AUTHOR
Lin J, Kennedy SH, Svarovsky T, Rogers J, Kemnitz JW, Xu A, Zondervan KT:
1
High-quality genomic DNA extraction from formalin-fixed and paraffin-
2
embedded samples deparaffinized using mineral oil. Anal Biochem 2009,
3
395:265-267.
4
Shi SR, Datar R, Liu C, Wu L, Zhang Z, Cote RJ, Taylor CR: DNA extraction
5
from archival formalin-fixed, paraffin-embedded tissues: heat-induced retrieval
6
in alkaline solution. Histochem Cell Biol 2004, 122:211-218.
7
Hennig G, Gehrmann M, Stropp U, Brauch H, Fritz P, Eichelbaum M, Schwab
8
M, Schroth W: Automated extraction of DNA and RNA from a single formalin-
9
fixed paraffin-embedded tissue section for analysis of both single-
10
nucleotide polymorphisms and mRNA expression. Clin Chem 2010,
11
56:1845-1853.
12
Huijsmans CJ, Damen J, van der Linden JC, Savelkoul PH, Hermans MH:
13
Comparative analysis of four methods to extract DNA from paraffin-
14
embedded tissues: effect on downstream molecular applications. BMC Res
15
Notes 2010, 3:239.
16
Pikor LA, Enfield KS, Cameron H, Lam WL: DNA extraction from paraffin
17
embedded material for genetic and epigenetic analyses. J Vis Exp 2011.
18
Greer CE, Lund JK, Manos MM: PCR amplification from paraffin-embedded
19
tissues: recommendations on fixatives for long-term storage and prospective
20
studies. PCR Methods Appl 1991, 1:46-50.
21
Santos S, Sa D, Bastos E, Guedes-Pinto H, Gut I, Gartner F, Chaves R: An
22
efficient protocol for genomic DNA extraction from formalin-fixed paraffin-
23
embedded tissues. Res Vet Sci 2008.
24
Goelz SE, Hamilton SR, Vogelstein B: Purification of DNA from formaldehyde
25
fixed and paraffin embedded human tissue. Biochem Biophys Res Commun
26
1985, 130:118-126.
27
Clausen KP, Grizzle WE, Livolsi V, Newton WA, Jr., Aamodt R: Special
28
communication. The Cooperative Human Tissue Network. Cancer 1989,
29
63:1452-1455.
30
LiVolsi VA, Clausen KP, Grizzle W, Newton W, Pretlow TG, 2nd, Aamodt R:
31
The Cooperative Human Tissue Network. An update. Cancer 1993,
32
71:1391-1394.
33
Jewell SD, Srinivasan M, McCart LM, Williams N, Grizzle WH, LiVolsi V,
34
MacLennan G, Sedmak DD: Analysis of the molecular quality of human tissues:
35
an experience from the Cooperative Human Tissue Network. Am J Clin
36
Pathol 2002, 118:733-741.
37
Srinivasan M, Sedmak D, Jewell S: Effect of fixatives and tissue processing on
38
the content and integrity of nucleic acids. Am J Pathol 2002, 161:1961-1971.
39
Ben-Ezra J, Johnson DA, Rossi J, Cook N, Wu A: Effect of fixation on the
40
amplification of nucleic acids from paraffin-embedded material by the polymerase
41
chain reaction. J Histochem Cytochem 1991, 39:351-354.
42
Shi SR, Cote RJ, Wu L, Liu C, Datar R, Shi Y, Liu D, Lim H, Taylor CR: DNA
43
extraction from archival formalin-fixed, paraffin-embedded tissue sections
44
based on the antigen retrieval principle: heating under the influence of pH. J
45
Histochem Cytochem 2002, 50:1005-1011.
46
Shi SR, Cote C, Kalra KL, Taylor CR, Tandon AK: A technique for retrieving
47
antigens in formalin-fixed, routinely acid-decalcified, celloidin-embedded
48
human temporal bone sections for immunohistochemistry. J Histochem Cytochem
49
1992, 40:787-792.
50
ORIGINAL_ARTICLE
Evaluation of V617F JAK 2 gene mutation by high resolution Melting method in patient witherythrocytosis
Although several techniques have been developed for the detection of JAK2 V617F mutation, these techniques have their disadvantages. High-resolution melting (HRM) analysis is a new, post-PCR analysis. Simple and fast, this method is based on PCR melting curve techniques. This study examined the JAK2 V617F mutation by the high-resolution melting method in 20 patients with erythrocytosis, and the results were compared with those obtained from the direct sequencing method. The results showed 100% sensitivity and 100% positive predictive value for this methodology in the patient sample set tested.
https://www.pmjournal.ir/article_43453_696926aea6f2fdb675a0c9c98112c933.pdf
2020-06-01
9
11
10.22034/pmj.2020.43453
Myeloproliferative
JAK2
point mutation
High-Resolution Melting
Fawziah
M. Mohammed
fawziahmam@hsc.edu.kw
1
Faculty of Allied Health Sciences KuwaitnMedical Laboratory Sciences
LEAD_AUTHOR
Hossein
Pakzad
2
Department of biology, Tehran-east branch, Islamic azad university, Tehran, Iran
AUTHOR
Vahid Reza
Esfahani
vahidstar26@gmail.com
3
Personalized Medicine Research Center of AmitisGen, Tehran, Iran
AUTHOR
Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative diseases. Lancet 2005;365:1054–61.
1
Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofi brosis. Cancer Cell 2005;7:387–97.
2
Vainchenker W, Constantinescu SN. A unique activating mutation in JAK2(V617F) is at the origin of polycythemia vera and allows a new classifi cation of myeloproliferative diseases. Hematology 2005;2005:195–200.
3
Zhao R, Xing S, Li Z, et al. Identifi cation of an acquired JAK2 mutation in polycythemia vera. J Biol Chem 2005;280:22788–92.
4
James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature 2005;434:1144–8.
5
Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005;352:1779–90.
6
Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005;106:2162–8.
7
Kr¨oger N, Badbaran A, Holler E, et al. Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofi brosis. Blood 2007;109:1316–21.
8
Tefferi A, Thiele J, Orazi A, et al. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofi brosis: recommendations from an ad hoc international expert panel. Blood 2007;110:1092–7.
9
Vardiman JW, Bennett JM, Bain BJ, et al. Myelodysplastic/myeloproliferative neoplasm, unclassifi able. In: Swerdlow SH, Campo E, Harris NL, et al, editors. WHO classifi cation of tumours of haematopoietic and lymphoid tissues. Lyon: IARC Press; 2008. p. 85–6.
10
Lippert E, Boissinot M, Kralovics R, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood 2006;108:1865–7.
11
Steensma DP. JAK2 V617F in myeloid disorders: molecular diagnostic techniques and their clinical utility: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn 2006;8:397–411.
12
Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ. High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 2003;49: 853–60.
13
Herrmann MG, Durtschi JD, Bromley LK, Wittwer CT, Voelkerding KV. Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes. Clin Chem 2006;52:494–503.
14
Pola´kova´ KM, Lopotova´ T, Klamova´ H, Moravcova´ J. High Resolution melt curve analysis: initial screening for mutations in BCR-ABL kinase domain. Leuk Res 2008;32:1236–43.
15
van der Stoep N, van Paridon CD, et al. Diagnostic guidelines for highresolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat 2009;30:899–909.
16
ORIGINAL_ARTICLE
Increased expression of the lnc H19 gene in the plasma of people with breast cancer
The majority of ncRNAs are known as long non-coding RNAs (lncRNAs) whose length exceeds 200 nucleotides. H19, a lncRNA, is the transcription product of the H19 gene, an oncogene in breast cancer, and is highly expressed in cancer tissues compared with normal tissues. The expression level of H19 is associated with the oncogenesis, proliferation, invasion, metastasis, and drug resistance of breast cancer. H19 expression levels were detected in breast cancer plasma using qRT-Real-Time PCR assay in 50 breast cancer samples and 50 healthy control samples. The results showed that the expression of this gene in both the tissue and the plasma of patients increased compared to that of healthy individuals.
https://www.pmjournal.ir/article_43454_4a6cbd9219c6fd9f7ae988955f8df29e.pdf
2020-06-01
12
14
10.22034/pmj.2020.43454
lncRNAs
Breast cancer
Gene expression
Plasma
qRT-Real-Time PCR
kazhaleh
Mohammadi
kazhaleh.mohammadi@knu.edu.iq
1
Researcher and lecture assistant at the Medical Laboratory Science Department, Knowledge University, Kurdistan Region, Erbil, Iraq
LEAD_AUTHOR
Sadegh
Shojaei Baghini
shojai_sadegh88@yahoo.com
2
Plant Biotechnology, Agriculture Biotechnology Department, National Institute of Genetics Engineering and Biotechnology, Tehran, Iran
AUTHOR
Mohammad Ali
Saremi
masaremi@yahoo.com
3
Personalized Medicine Research Center of AmitisGen, Tehran, Iran
AUTHOR
Kapranov P, Cheng J, Dike S, Nix DA, Duttagupta R, Willingham AT, Stadler PF, Hertel J, Hackermuller J, Hofacker IL, et al: RNA maps reveal new RNA classes and a possible function for pervasive transcription. Science 316:1484-1488,2007.
1
Dahariya S, Paddibhatla I, Kumar S, Raghuwanshi S, Pallepati A and Gutti RK: Long non‑coding RNA: Classification, biogenesis and functions in blood cells. Mol Immunol 112: 82-92, 2019.
2
M.J. Duffy, D. Evoy and E.W. McDermott, CA 15-3: uses and limitation as a biomarker for breast cancer, Clin Chim Acta 411 (2010), 1869-1874.
3
N. Patani, L.A. Martin and M. Dowsett, Biomarkers for the clinical management of breast cancer: international perspective, Int J Cancer 133 (2013), 1-13.
4
5.S. van Heesch, M. van Iterson, J. Jacobi, et al., Extensive localization of long noncoding RNAs to the cytosol and monoand polyribosomal complexes, Genome Biol 15 (2014), R6.
5
Raveh E, Matouk IJ, Gilon M and Hochberg A: The H19 Long non-coding RNA in cancer initiation, progression and metastasis-a proposed unifying theory. Mol Cancer14:184,2015.
6
7.Yoshimura H, Matsuda Y, Yamamoto M, Kamiya S and Ishiwata T: Expression and role of long non-coding RNA H19 in carcinogenesis. Front Biosci (Landmark Ed) 23: 614-625, 2018.
7
Bao MH, Szeto V, Yang BB, Zhu SZ, Sun HS and Feng ZP: Long non-coding RNAs in ischemic stroke. Cell Death Dis 9: 281, 2018.
8
Zeng Y, Li TL, Zhang HB, Deng JL, Zhang R, Sun H, Wan ZR, Liu YZ, Zhu YS and Wang G: Polymorphisms in IGF2/H19 gene locus are associated with platinum-based chemotherapeutic response in Chinese patients with epithelial ovarian cancer. Pharmacogenomics 20: 179-188, 2019.
9
Ghaedi H, Zare A, Omrani MD, Doustimotlagh AH, Meshkani R, Alipoor S and Alipoor B: Genetic variants in long noncoding RNA H19 and MEG3 confer risk of type 2 diabetes in an Iranian population. Gene 675: 265-271, 2018.
10
N. Giannoukakis, C. Deal, J. Paquette, et al., Parental genomic imprinting of the human IGF2 gene, Nat Genet 4 (1993), 98101.
11
T. Dugimont, J.J. Curgy, N. Wernert, et al., The H19 gene is expressed within both epithelial and stromal components of human invasive adenocarcinomas, Biol Cell 85 (1995), 117124.
12
E. Adriaenssens, S. Lottin, T. Dugimont, et al., Steroid hormones modulate H19 gene expression in both mammary gland and uterus, Oncogene 18 (1999), 4460-4473.
13
M. Zhu, Q. Chen, X. Liu, et al., lncRNA H19/miR-675 axis represses prostate cancer metastasis by targeting TGFBI, FEBS J 281 (2014), 3766-3775.
14
M. Zhu, Q. Chen, X. Liu, et al., lncRNA H19/miR-675 axis represses prostate cancer metastasis by targeting TGFBI, FEBS J 281 (2014), 3766-3775.
15
M. Zhu, Q. Chen, X. Liu, et al., lncRNA H19/miR-675 axis represses prostate cancer metastasis by targeting TGFBI, FEBS J 281 (2014), 3766-3775.
16
Y.J. Jiang and D.D. Bikle, LncRNA: a new player in 1alpha, 25(OH)(2) vitamin D(3) /VDR protection against skin cancer formation, Exp Dermatol 23 (2014), 147-150.
17
Z.F. Yang, P. Ngai, D.W. Ho, et al., Identification of local and circulating cancer stem cells in human liver cancer, Hepatology 47 (2008), 919-928.
18
Zhou W, Ye XL, Xu J, Cao MG, Fang ZY, Li LY, Guan GH, Liu Q, Qian YH and Xie D: The lncRNA H19 mediates breast cancer cell plasticity during EMT and MET plasticity by differentially sponging miR-200b/c and let-7b. Sci Signal 10: pii: eaak9557,2017
19
Zhou W, Ye XL, Xu J, Cao MG, Fang ZY, Li LY, Guan GH, Liu Q, Qian YH and Xie D: The lncRNA H19 mediates breast cancer cell plasticity during EMT and MET plasticity by differentially sponging miR-200b/c and let-7b. Sci Signal 10: pii: eaak9557, 2017.
20
21. De Martino M, Forzati F, Marfella M, Pellecchia S, Arra C, Terracciano L, Fusco A and Esposito F: HMGA1P7-pseudogene regulates H19 and Igf2 expression by a competitive endogenous RNA mechanism. Sci Rep 6: 37622, 2016.
21
ORIGINAL_ARTICLE
The effect of silver nanoparticles on MCF7 breast cancer cell
Currently, little is known about the mechanism(s) of AgNP-induced toxicity. Many previous studies, however, have provided strong evidence for a link between the AgNP-mediated production of ROS and the subsequent generation of oxidative stress. In the current study, the effects of Ag nanoparticles on the MCF-7 breast cell line were examined, and the biomarkers related to stress oxidative including GSH, superoxide dismutase, catalase, and ROS generation were evaluated. The results showed that Ag nanoparticles induced intracellular ROS generation in a dose- and time-dependent manner. Therefore, various studies should be performed to investigate the toxic effects of this substance on different cells.
https://www.pmjournal.ir/article_43455_b8b4e4ceea546eb4eefe420c7731b7c7.pdf
2020-06-01
15
17
10.22034/pmj.2020.43455
Ag nanoparticle
MCF-7 cell line
Stress oxidative
Ros
Abdulkarim
Karim
abdulkarim.karim@su.edu.krd
1
College of Science, SALAHADDIN UNIVERSITY-ERBIL (SUE)
LEAD_AUTHOR
Mohammad Ali
Keshavarz Shahbaz
ali.keshavarz1989@gmail.com
2
Human Genetics Division, Medical Biotechnology Department, National Institute of Genetics Engineering and Biotechnology, Tehran, Iran
AUTHOR
Afarin
Komam
3
Personalized Medicine Research Center of AmitisGen, Tehran, Iran
AUTHOR
Ahamed M, Karns M, Goodson M, Rowe J, Hussain SM, Schlager JJ, Hong Y. 2008. DNA damage response to different surface chemistry of silver nanoparticles in mammalian cells. Toxicol. Appl. Pharmacol. 233: 404–410.
1
Ahamed M, Posgai R, Gorey TJ, Nielsen M, Hussain SM, Rowe JJ. 2010. Silver nanoparticles induced heat shock protein 70, oxidative stress and apoptosis in Drosophila melanogaster. Toxicol. Appl. Pharmacol. 242: 263–269.
2
Choi O, Hu Z. 2008. Size dependent and reactive oxygen species related nanosilver toxicity to nitrifying bacteria. Environ. Sci. Technol. 42: 4583–4588.
3
Farkas J, Christian P, Gallego-Urrea JA, Roos N, Hassellov M, Tollefsen KE,
4
Thomas KV. 2010. Effects of silver and gold nanoparticles on rainbow trout (Oncorhynchus mykiss) hepatocytes. Aquat. Toxicol. 96: 44–52.
5
Ringwood AH, McCarthy M, Bates TC, Carroll DL. 2010. The effects of silver nanoparticles on oyster embryos. Mar. Environ. Res. 69: S49–51.
6
Li PW, Kuo TH, Chang JH, Yeh JM, Chan WH. 2010. Induction of cytotoxicity and apoptosis in mouse blastocysts by silver nanoparticles. Toxicol. Lett. 197:82–87.
7
Kim S, Choi JE, Choi J, Chung KH, Park K, Yi J, Ryu DY. 2009. Oxidative stress-dependent toxicity of silver nanoparticles in human hepatoma cells. Toxicol. In Vitro 23: 1076–1084
8
Kim S, Choi JE, Choi J, Chung KH, Park K, Yi J, Ryu DY. 2009. Oxidative stress-dependent toxicity of silver nanoparticles in human hepatoma cells. Toxicol. In Vitro 23: 1076–1084
9
Xia T, Kovochich M, Brant J, Hotze M, Sempf J, Oberley T, Sioutas C, Yeh JI, Wiesner MR, Nel AE. 2006. Comparison of the abilities of ambient and manufactured nanoparticles to induce cellular toxicity according to an oxidative stress paradigm. Nano Lett. 6: 1794–1807.
10
Wei L, Lu J, Xu H, Patel A, Chen ZS, Chen G. Silver nanoparticles: synthesis, properties, and therapeutic applications. Drug Discov Today. 2015; 20: 595-601.
11
Raghunandan D, Ravishankar B, Sharanbasava G, et al. Anti-cancer studies of noble metal nanoparticles synthesized using different plant extracts. Cancer Nanotechnol 2011; 2: 57-65.
12
Gurunathan S, Raman J, Malek SNA, John PA, Vikineswary S. Green synthesis of silver nanoparticles using Ganoderma neojaponicum Imazeki: A potential cytotoxic agent against breast cancer cells.Int JNanomedicinn 2013;8:4399-4413.
13
14.Nazir S, Hussain T, Iqbal Md, Mazhar K, Muazzam AG, Ismail J Md. Novel and costeffective green synthesis of silver nanoparticles and their in vivo antitumor
14
properties against humancancer cell lines. Biosci Tech 2011; 2: 425-443.
15
Guo D, Zhu L, Huang Z, et al. Anti-leukemia activity of PVP-coated silver nanoparticles via generation of reactive oxygen species and release of silver ions. Biomaterials 2013; 34: 7884-7894.
16
16.Kathiravan V, Ravi S, Ashokkumar S. Synthesis of silver nanoparticles from Melia dubia leaf extract and their in vitro anticancer activity. Spectrochim Acta A Mol Biomol Spectrosc 2014; 130: 116-121.
17
Nagajyothi PC, Sreekanth TVM, Lee JI, Lee KD. Mycosynthesis: antibacterial, antioxidant and antiproliferative activities of silver nanoparticles synthesized from Inonotus obliquus (Chaga mushroom) extract. J
18
ORIGINAL_ARTICLE
Relationship between PAI1 promoter 4G/5g polymorphism and stroke
PAI-1 has become recognized as a central molecule linking pathogenesis and progression of thrombotic vascular events, including stroke. Clinical and experimental studies show that PAI-1 deficiencies cause accelerated fibrinolysis and bleeding, whereas elevated PAI-1 plasma levels are associated with vascular thrombosis. Raised PAI1 plasma levels are related to a 1-bp guanine deletion/insertion (4G/5G) polymorphism in the promoter of the PAI1 gene. The 4G allele is associated with higher plasma PAI1 transcription and activity. In the current study, the association of higher PAI-1 plasma levels and the prevalence of the 4G/5G polymorphism in the PAI-1 gene promoter region in young patients with stroke were explored. Significantly, higher PAI-1 levels were observed in patients when compared to controls (p =002). The 4G/5G polymorphisms were significantly associated with increased PAI-1 levels, with the variant homozygous 4G/4G corresponding to mean values in patients versus controls.
https://www.pmjournal.ir/article_43456_aede7816e139e7092a1cb533144f578b.pdf
2020-06-01
18
20
10.22034/pmj.2020.43456
Stroke
PAI-1
Polymorphism
Plasma
Sahar
Hassannejad
sahar.najad@knowledge.edu.krd
1
Researcher and lecture assistant at the Medical Laboratory Science Department, Knowledge University, Kurdistan Region, Erbil, Iraq
LEAD_AUTHOR
Ehsan
Razeghian
2
Human Genetics Division, Medical Biotechnology Department, National Institute of Genetics Engineering and Biotechnology, Tehran, Iran
AUTHOR
Najme
Shojaei
3
Personalized Medicine Research Center of AmitisGen, Tehran, Iran
AUTHOR
Dawson SJ, Wiman B, Hamsten A, et al. The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells. JBiolChem. 1993;268(15):10739-10745.
1
Klinger KW, Winqvist R, Riccio A, et al. Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis. Proc Natl Acad Sci U S A. 1987;84(23):8548-8552.
2
Klinger KW, Winqvist R, Riccio A, et al. Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis. Proc Natl Acad Sci U S A. 1987;84(23):8548-8552.
3
Tsai SJ, Hong CJ, Liou YJ, Yu YW, Chen TJ. Plasminogen activato inhibitor-1 gene is associated with major depression and antidepressant treatment response. Pharmacogenet Genomics 2008;18(10):869-875.
4
Hoekstra T, Geleijnse JM, Kluft C, Giltay EJ, Kok FJ, Schouten EG. 4G/4G genotype of PAI-1 gene is associated with reduced risk of stroke in elderly Stroke. 2003;34:2822–2829.
5
Catto AJ, Carter AM, Stickland M, et al. Plasminogen activator inhibitor-1(PAI-1) 4G/5G promoter polymorphism and levels in subjects with cerebrovascular disease. Thromb Haemost. 1997;77:730 –734.
6
Heijmans BT, Westendorp RG, Knook DL, et al. Angiotensin I-converting enzyme and plasminogen activator inhibitor-1 gene variants: risk of mortality and fatal cardiovascular disease in an elderly population-based cohort. J Am Coll Cardiol. 1999;34:1176 –1183.
7
Roest M, van der Schouw YT, Banga JD, et al. Plasminogen activator inhibitor 4G polymorphism is associated with decreased risk of cerebrovascular mortality in older women. Circulation. 2000;101:67–70.
8
Elbaz A, Cambien F, Amarenco P. Plasminogen activator inhibitor genotype and brain infarction. Circulation. 2001;103:E13–E14. Endler G, Lalouschek W, Exner M, et al. The 4G/4G genotype at nucleotide position -675 in the promotor region of the plasminogen activator inhibitor 1 (PAI-1) gene is less frequent in young patients with minor stroke than in controls. Br J Haematol. 2000;110:469 – 471.
9
Hindorff LA, Schwartz SM, Siscovick DS, et al. The association of PAI-1 promoter 4G/5G insertion/deletion polymorphism with myocardial infarction and stroke in young women. J Cardiovasc Risk. 2002;9:131–137.
10
Petrovic D, Milanez T, Kobal J, et al. Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction. Acta Neurol Scand. 2003;108:109 –113.
11
Eriksson P, Kallin B, ’t Hooft FM, et al. Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction. Proc Natl Acad Sci U S A. 1995;92: 1851–1855.
12
Hoekstra T, Geleijnse JM, Kluft C, Giltay EJ, Kok FJ, Schouten EG. 4G/4G genotype of PAI-1 gene is associated with reduced risk of stroke in elderly Stroke. 2003;34:2822–2829.
13
Catto AJ, Carter AM, Stickland M, et al. Plasminogen activator inhibitor-1(PAI-1) 4G/5G promoter polymorphism and levels in subjects with cerebrovascular disease. Thromb Haemost. 1997;77:730 –734.
14
15.Heijmans BT, Westendorp RG, Knook DL, et al. Angiotensin I-converting enzyme and plasminogen activator inhibitor-1 gene variants: risk of mortality and fatal cardiovascular disease in an elderly population-based cohort. J Am Coll Cardiol. 1999;34:1176 –1183.
15
Roest M, van der Schouw YT, Banga JD, et al. Plasminogen activator inhibitor 4G polymorphism is associated with decreased risk of cerebrovascular mortality in older women. Circulation. 2000;101:67–70.
16
Elbaz A, Cambien F, Amarenco P. Plasminogen activator inhibitor genotype and brain infarction. Circulation. 2001;103:E13–E14.
17
Endler G, Lalouschek W, Exner M, et al. The 4G/4G genotype at nucleotide position -675 in the promotor region of the plasminogen activator inhibitor 1 (PAI-1) gene is less frequent in young patients with minorstroke than in controls. Br J Haematol. 2000;110:469 – 471.
18
Hindorff LA, Schwartz SM, Siscovick DS, et al. The association of PAI-1 promoter 4G/5G insertion/deletion polymorphism with myocardial infarction and stroke in young women. J Cardiovasc Risk. 2002;9:131–137.
19
Petrovic D, Milanez T, Kobal J, et al. Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction. Acta Neurol Scand. 2003;108:109 –113.
20
ORIGINAL_ARTICLE
Investigating the relationship between VEGF gene C936T-rs3025039 polymorphism and type 2 diabetes
Type 2 diabetes (T2D), formerly known as adult-onset diabetes, is characterized by high blood sugar, insulin resistance, and relative lack of insulin.Diabetic retinopathy, a secondary microvascular complication of diabetes mellitus, is the leading cause of blindness. There is extensive evidence that the pathologic ocular angiogenesis in diabetic retinopathy is regulated by the vascular endothelial growth factor-A (VEGF-A).The single nucleotide polymorphism (SNP) C936T (rs3025039) of the VEGF gene has been investigated in relation to cancer, endometriosis, and age-related macular degeneration. The relationship between the rs3025039 VEGF gene polymorphism and the risk of type 2 diabetic retinopathy in 80 DT2 patients was examined. No significant association was found between polymorphism C936T and type 2 diabetes. It is recommended that this study be repeated on a larger population.
https://www.pmjournal.ir/article_43457_ac7f4367c28e6823ab33c2e079041962.pdf
2020-06-01
21
24
10.22034/pmj.2020.43457
type 2 diabetes
Diabetic retinopathy
single nucleotide polymorphism
microvascular
Hadi
Yari
yari.hadi@gmail.com
1
Human Genetics Division, Medical Biotechnology Department, National Institute of Genetics Engineering and Biotechnology, Tehran, Iran.
LEAD_AUTHOR
Niloofar
JAHANGIR SOOLTANI
2
Department of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
AUTHOR
Mohammad Ali
Saremi
masaremi@yahoo.com
3
Personalized Medicine Research Center of AmitisGen, Tehran, Iran
AUTHOR
Andersen NF, Vogel U, Klausen TW, Gimsing P, Gregersen H,Abildgaard N and Vangsted AJ: Vascular endothelial growthfactor (VEGF) gene polymorphisms may influence the efficacy of thalidomide in multiple myeloma. Int J Cancer 131: E636-E642,2012.
1
Mandal RK, Yadav SS, Panda AK and Khattri S: Vascular endothelial growth factor 936 c>T polymorphism increased oral cancer risk: Evidence from a meta-analysis. Genet Test Mol Biomarkers 17: 543-547, 2013.
2
Oliveira C, Lourenço GJ, Silva PM, Cardoso-Filho C, Favarelli MH, Gonçales NS, Gurgel MS and Lima CS: Polymorphisms in the 5'- and 3'-untranslated region of the VEGF gene and sporadic breast cancer risk and clinicopathologic characteristics. Tumour Biol 32: 295-300, 2011.
3
Eroglu A, Gulec S and Akar N: Vascular endothelial growthfactor C936T polymorphism in cancer patients with thrombosis. Am J Hematol 82: 174, 2007.
4
Kim HW, Ko GJ, Kang YS, Lee MH, Song HK, Kim HK and Cha DR: Role of the VEGF 936 C/T polymorphism in diabetic microvascular complications in type 2 diabetic patients.Nephrology (Carlton) 14: 681-688, 2009.
5
Awata T, Inoue K, Kurihara S, Ohkubo T, Watanabe M, Inukai K, Inoue I and Katayama S: A common polymorphism in the 5-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes. Diabetes 51: 1635-1639, 2002.
6
Yang X, Deng Y, Gu H, Lim A, Altankhuyag A, Jia W, Ma K, Xu J, Zou Y, Snellingen T, et al: Polymorphisms in the vascularendothelial growth factor gene and the risk of diabetic retinopathy in Chinese Patients with type2 diabetes. Mol Vis17:3088-3096,2011.
7
Thieme H, Aiello LP, Takagi H, Ferrara N, King GL. Comparative analysis of vascular endothelial growth factor receptors on retinaland aortic vascular endothelial cells. Diabetes 1995; 44: 98-103.
8
Resnick N, Collins T, Atkinson W, Bronthron DT, Dewey CF Jr.,Gimborne MA Jr. Platelet derived growth factor B chain promoter contains a cis-acting fluid shear stress responsive element. Proc Natt Acad Sci USA 1993; 90: 4592-5.
9
Deguchi T, Hashiguchi T, Horinouchi S, Uto T, Oku H, Kimura K,Makisumi K and Arimura K: Serum VEGF increases in diabetic polyneuropathy, particularly in the neurologically active symptomatic stage. Diabet Med26:247-252,2009.
10
Xaplanteris P, Vlachopoulos C, Baou K, Vassiliadou C, Dima I,Ioakeimidis N and Stefanadis C: The effect of p22(phox) 930A/G, A640G and C242T polymorphisms of NADPH oxidase on peripheral and central pressures in healthy, normotensive individuals. Hypertens Res 33: 814-818, 2010.
11
Narne P, Ponnaluri KC, Singh S, Siraj M and Ishaq M: Relationship between NADPH oxidase p22phox C242T, PARP‑1 Val762Ala polymorphisms, angiographically verified coronary artery disease and myocardial infarction in South Indian patients with type 2 diabetes mellitus. Thromb Res 130: e259-e265, 2012.
12
Naka KK, Papathanassiou K, Bechlioulis A, Kazakos N, Pappas K, Tigas S, Makriyiannis D, Tsatsoulis A and Michalis LK: Determinants of vascular function in patients with type 2 diabetes. Cardiovasc Diabetol 11: 127, 2012.
13
Pirola L, Balcerczyk A, Okabe J and El-Osta A: Epigenetic phenomena linked to diabetic complications. Nat Rev Endocrinol 6: 665-675, 2010.
14
Perkins BA, Orszag A, Ngo M, Ng E, New P and Bril V: Prediction of incident diabetic neuropathy using the monofilament examination A 4-year Prospective study. Diabetes Care33:1549-1554,2010.
15
Feng Y, Schlösser FJ and Sumpio BE: The Semmes Weinsteinmonofilament examination is a significant predictor of the risk of foot ulceration and amputation in patients with diabetes mellitus. J Vasc Surg 53: 220-226, 2011.
16
Di Castelnuovo A, Soccio M, Iacoviello L, Evangelista V, Consoli A, Vanuzzo D, Diviacco S, Carluccio M, Rignanese L and De Caterina R: The C242T polymorphism of the p22phox component of NAD(P)H oxidase and vascular risk. Two case-control studies and a meta-analysis. Thromb Haemost 99: 594-601, 2008.
17
Kassab A and Piwowar A: Cell oxidant stress delivery and cell dysfunction onset in type 2 diabetes. Biochimie 94: 1837-1848, 2012.
18
Goliasch G, Wiesbauer F, Grafl A, Ponweiser E, Blessberger H, Tentzeris I, Wojta J, Schillinger M, Huber K, Maurer G, et al: The effect of p22-PHOX (CYBA) polymorphisms on premature coronary artery disease (≤40 years of age). Thromb Haemost 105:529-534, 2011.
19