eng
Egyptian Society for Physiological Sciences
Bulletin of Egyptian Society for Physiological Sciences
1110-0842
2356-9514
2016-12-01
36
2
53
67
10.21608/besps.2016.8645
8645
Original Article
Xenobiotics Metabolizing Enzymes Gene Polymorphism and susceptibility of Hepatocellular Carcinoma in Egyptian Patients with Hepatitis C Virus-induced Cirrhosis
Manar Obada
manarobada@yahoo.com
1
Ashraf El-Fert
2
Asmaa Gomaa
3
Mohamed Hashim
4
Mohamed Kohla
5
Wael Abdelrazek
6
Om kolsoum El hadad
7
Hala El-Said
8
D Clinical Biochemistry Department, National Liver Institute, Menoufia University, Egypt.
Clinical Biochemistry,Menoufia University, Egypt.
Hepatology Departments, National Liver Institute, Menoufia University,Egypt.
Hepatology Departments, National Liver Institute, Menoufia University,Egypt.
Hepatology Departments, National Liver Institute, Menoufia University,Egypt.
Hepatology Departments, National Liver Institute, Menoufia University,Egypt.
Hepatology Departments, National Liver Institute, Menoufia University,Egypt.
Clinical Biochemistry,Menoufia University,Egypt.
Background: Chronic hepatitis C virus (HCV) infection is the most frequent cause of progressive liver disease and hepatocellular carcinoma (HCC) in Egypt. Risk of HCC can be affected by the exposure to endogenous or environmental toxins. Genetic polymorphism of the carcinogens-metabolizing enzymes, were suggested as modifiers of cancer risk. So, the present study aimed to investigate the association between xenobiotic metabolizing enzymes [cytochrome P450 (CYP2D6), N-acetyl transferase 2 (NAT2) and UDP-glucuronosyltransferase 1A7 (UGT1A7)] gene polymorphism and the risk of HCC in patients with chronic HCV-induced cirrhosis compared to normal and chronic HCV infected subjects. Subjects and Methods: 354 subjects, divided into 3 groups, (group I: 150 patients had chronic hepatitis C with HCC, group II: 104 patients had chronic hepatitis C without HCC and group III: 100 healthy controls. The studied genes were genotyped using polymerase chain reaction-restriction fragment length polymorphism and allelic discrimination assays. Results: CYP2D6*6 and CYP2D6*3 poor metabolizers (homozygous mutant genotypes) were significantly increased in HCC patients compared to controls and were associated with increased HCC risk with ORs and 95%CI of 4.0 (2.5-6.4) and 3.32 (2.1-5.2) respectively. Meanwhile, CYP2D 6*4 extensive metabolizer (homozygous wild genotypes; GG) was significantly increased in HCC patients compared to controls and was associated with increased HCC risk with ORs and 95%CI of 2.3 (1.42-3.85). However homozygous mutant genotypes (slow acetylators) of NAT2 M1, M2 and M3 showed no significant difference between HCC patients and controls and were not associated with increased HCC risk. Also, genotypes of UGT1A7 gene showed no significant difference in HCC patients compared to other groups and had no effect on HCC susceptibility. Conclusion: Poor metabolizers’ genotypes of CYP2D 6*6 and CYP2D 6*3 and extensive metabolizer genotypes of CYP2D 6*4 may be risk factors for HCC in patients infected with HCV. Meanwhile, NAT2 and UGT1A7 genes polymorphism were not associated with increased risk of HCC in the studied patients.
https://besps.journals.ekb.eg/article_8645_0c9795693b80a994d892fae7f1f2d31f.pdf
Polymorphism
xenobiotics
metabolizing enzymes
genes
Hepatocellular carcinoma
eng
Egyptian Society for Physiological Sciences
Bulletin of Egyptian Society for Physiological Sciences
1110-0842
2356-9514
2016-12-01
36
2
68
84
10.21608/besps.2016.8646
8646
Original Article
Evaluation of t(14;18)(q32;q21) and BCL2 protein and their prognostic role in follicular lymphoma
Afaf Ibrahiem
1
Doaa Ghorab
2
Naglaa Azab
naglaa.azab@fmed.bu.edu.eg
3
Rabab Salim
4
Department of pathology, Faculty of Medicine, Mansoura University, Mansoura - Egypt.
Department of pathology, Faculty of Medicine, Mansoura University, Mansoura - Egypt.
Department of Medical Biochemistry, Faculty of Medicine, Benha University, Benha - Egypt.
Department of Medical Biochemistry, Faculty of Medicine, Benha University, Benha - Egypt.
Background: Previous reports have suggested the significant association of t(14;18) (q32;q21) and follicular lymphoma (FL). However, little information is available in the literature on the relationship between BCL2 protein, BCL2 gene status in FL and the patient outcomes. Also, understanding of IGH/BCL2 molecular rearrangement using real time PCR (RT-PCR), in follicular lymphoma in relation to survival might provide a more accurate and rational method of risk stratification to guide treatment and might suggest new therapeutic approaches as well. Methods: This study evaluated the relative frequency of t(14;18) by RT-PCR and its apoptosis-related BCL2 protein expression by an immunohistochemical assay (IHC) in fifty FL cases in tissues. In addition, we evaluated the relation of BCL2 protein expression to the translocation, together with the relation of both t(14;18) and BCL2 protein expression to the clinico-pathological features and survival data including progression free survival (PFS); and overall survival (OS) in order to evaluate their prognostic role in FL. Results & conclusion: There was a significant association of the t(14;18) with BCL2 protein expression, grading of FL, and the OS. In addition, there was a significant association of BCL2 protein expression with the grading of FL, OS, International Prognostic Index (IPI) score and performance status. However no significant association of t(14;18) or BCL2 protein expression with the other clinico-pathological features, and PFS.
https://besps.journals.ekb.eg/article_8646_5d27376541b4ce30fda58326775fdbcc.pdf
t(14
18)(q32
q21) ,BCL2 protein ,Follicular lymphoma ,MBR ,icr ,mcr
eng
Egyptian Society for Physiological Sciences
Bulletin of Egyptian Society for Physiological Sciences
1110-0842
2356-9514
2016-12-01
36
2
85
93
10.21608/besps.2016.8648
8648
Original Article
Association of interleukin-1 receptor antagonist (IL1RN) genetic variants with severity of knee osteoarthritis
Inas Ahmed
inas.ahmed@fmed.bu.edu.eg
1
Amira Mansour
2
Basant Elnady
3
Shaza Abdul Basset
4
Iman Fawzy
5
Department of Medical Biochemistry, Molecular Biology and Biotechnology Unit, Faculty of Medicine, Benha University, Al Qalyubia, Egypt
Department of Clinical Pathology, Faculty of Medicine, Benha University, Egypt.
Department of Rheumatology & Rehabilitation and Physical Medicine, Faculty of Medicine, Benha University, Egypt.
Department of Rheumatology & Rehabilitation and Physical Medicine, Faculty of Medicine, Benha University, Egypt.
Laboratory Medicine Department, Mansoura Fever Hospital, Mansoura, Egypt.
Osteoarthritis (OA) is a chronic musculoskeletal disorder, characterized by degeneration of articular cartilage and decreased motion range of affected joints. It is regarded as the most common cause of disability among elderly population worldwide. This study aimed to detect interleukin-1 receptor antagonist (IL1RN) genotypes at single nucleotide polymorphism (SNP) rs9005 and rs315943, in patients with knee osteoarthritis, and to clarify their influence on susceptibility and severity of the osteoarthritic disease. Forty-seven unrelated Egyptian patients with primary knee OA and thirty-six control subjects, with matched age, sex and body mass index were included in this study. All patients were subjected to full history taking, general examination and complete knee and joint examination including assessment of the severity of knee OA clinically using the Lequesne’salgofunctional Index and radiological grading by the Kellgren-Lawrence(KL) grade scale. Genotyping assays of IL1RN at SNP rs9005 and rs315943 were performed using real time PCR. IL1RN rs9005 AG, GG genotypes, G allele, as well as rs9005- rs315943 GC haplotype were associated with risk of OA development, while AChaplotype was associated with protective effect against OA development. Younger age of disease onset was associated with rs9005 GG genotype. Higher pain, maximum distance walked, activities of daily living (ADL), Lequesne’s scores and KL grading were associated with rs9005 GG, rs315943 CC genotypes and GC haplotype. Whereas, lower pain, maximum distance walked, ADL, Lequesne’s scores and KL grading were associated with rs9005 AA, rs315943 TT and AT haplotype.
https://besps.journals.ekb.eg/article_8648_cb23901c492d8d9f92c8cc49ba1d22a4.pdf
Interleukin-1 receptor antagonist gene
Knee osteoarthritis
SNP
eng
Egyptian Society for Physiological Sciences
Bulletin of Egyptian Society for Physiological Sciences
1110-0842
2356-9514
2016-12-01
36
2
94
106
10.21608/besps.2016.8651
8651
Original Article
Validity of real time PCR in preimplantation gender determination for single human blastomere
Naglaa Azab
naglaa.azab@fmed.bu.edu.eg
1
Rabab Salim
2
Amal Elshazly
3
Mohamed Hadi Farag
4
Tamer Assar
5
Department of Medical Biochemistry, Faculty of Medicine, Benha University, Benha - Egypt.
Department of Medical Biochemistry, Faculty of Medicine, Benha University, Benha - Egypt.
Department of Anatomy, Faculty of Medicine, Benha University, Benha - Egypt.
Department of Gynecology and Obstetrics, Faculty of Medicine, Benha University, Benha – Egypt.
Department of Gynecology and Obstetrics, Faculty of Medicine, Benha University, Benha – Egypt.
Preimplantation genetic diagnosis (PGD) offers couples who need to avoid having a child affected with a severe genetic disease, an alternative to prenatal diagnosis and termination of an existing pregnancy. One of the main indications of PGD is sex selection to avoid sex-linked genetic disorders. The main objective of the present study was to investigate the feasibility of whole genome amplification (WGA) and real time PCR for sexing of single human blastomere and to confirm the results by sequencing. Forty non-viable embryos were selected for analysis. WGA technique was employed on single blastomeres that were biopsied from embryos and on buccal mucosal cells obtained from five men and five women as positive and negative controls respectively. Whole genomic DNA amplification efficiency from a single human blastomere and from optimized buccal cells was 100 % and the level of amplification reached hundreds fold. The obtained genomic DNAs were then subjected to PCR amplification of the SRY, DYS14 and DAZ genes for gender determination. DAZ sequences correctly identified the gender of all male and female embryos with 100% sensitivity and specificity. However, the obtained sensitivity and specificity for SRY sequences were 92.6% and 100% respectively and the obtained sensitivity and specificity for DYS14 sequences were 100% and 93.8% respectively. The results of the present study prove the feasibility of WGA PCR assay for the detection of specific DNA fragments from single cells and the real-time PCR assay of the multicopy DAZ sequence in single human blastomeres detected correctly the embryo’s gender. This will pave their use in preimplantation gender determination genetic diagnosis.
https://besps.journals.ekb.eg/article_8651_63458b97ffcca604949871b03b189ff5.pdf
Preimplantation genetic diagnosis
Embryo sexing
Single human blastomere
Whole genome amplification
real time PCR
eng
Egyptian Society for Physiological Sciences
Bulletin of Egyptian Society for Physiological Sciences
1110-0842
2356-9514
2016-12-01
36
2
107
116
10.21608/besps.2016.8653
8653
Original Article
Selenium Increases Testicular Steroidogenesis and Growth Factors Expression in Streptozotocin-induced Diabetic Rats
Hoda Moghazy
hodamoghazy@yahoo.com
1
Aida Mahmoud
2
Muhammad A. Salman
3
Medical Physiology Department, Faculty of Medicine, Sohag University, Egypt.
Medical Biochemistry Department, Faculty of Medicine, Sohag University, Egypt.
Zoology Department, Faculty of Science; South Valley University, Qena, 83523,Egypt.
Selenium (Se) is an essential trace element and found to have important roles in maintaining normal growth and reproduction. The effect of Se on testicular steroidogenesis and testicular expression of vascular endothelial growth factor (VEGF) and nerve growth factor-beta (NGF-β) was studied in streptozotocin (STZ)- induced diabetic rats. The study included 45 male albino rats randomly divided into 3 groups; control (group I, n=15), diabetic (group II, n=15) and diabetic supplemented with Se (group III, n=15). The investigation revealed that, diabetic group (group II) had a significant decrease in Se level and testicular steroidogenesis evidenced by the decrease in testosterone and in the activity of two important enzymes synthesizing testosterone 3-beta-hydroxysteroid dehydrogenase (3β-HSDH) and 17-beta-hydroxysteroid dehydrogenase (17β- HSDH) compared to control group (P < 0.05). In addition, there was a significant decrease in testicular tissue levels of VEGF and NGF-β in diabetic rats compared to control rats (P < 0.05). While, diabetic group supplemented with Se (group III) exhibited a significant increase in Se level, the activity of 3 β-HSDH, 17 β-HSDH and testosterone concentration compared to group II. Also, group III exhibited a significant increase in the testicular tissue levels of VEGF and NGF-β compared to group II. In addition, Se supplementation improved testicular weight, the seminiferous tubules atrophy, the germinal epithelial cells lining tubules, Sertoli cells and interstitial cell of Leydig. In conclusion, Se supplementation increases testicular steroidogenesis and the expression of VEGF and NGF-β in STZ-induced diabetic rats.
https://besps.journals.ekb.eg/article_8653_55b705779587f91adc61bb50c6d6b6f4.pdf
growth factors
selenium
streptozotocin-induced diabetes
Steroidogenesis