Babol University of Medical Sciences
International Journal of Molecular and Cellular Medicine (IJMCM)
2251-9637
5
4
2016
11
1
Bioinformatics Analysis Reveals Genes Involved in the Pathogenesis of Ameloblastoma and Keratocystic Odontogenic Tumor
199
219
EN
Eliane
Macedo Sobrinho Santos
Department of Dentistry, Universidade Estadual de Montes Claros, Minas Gerais, Brazil.
Hércules
Otacílio Santos
Instituto Federal do Norte de Minas Gerais-Campus Salinas, Minas Gerais, Brazil.
Ivoneth
dos Santos Dias
Department of Biology, Universidade Estadual de Montes Claros, Minas Gerais, Brazil.
Sérgio
Henrique Santos
Department of Pharmacology, Universidade Federal de Minas Gerais, Brazil.
Alfredo
Maurício Batista de Paula
Department of Dentistry, Universidade Estadual de Montes Claros, Minas Gerais, Brazil.
John David
Feltenberger
Texas Tech University Health Science Center, Lubbock, TX, USA.
André Luiz
Sena Guimarães
Department of Dentistry, Universidade Estadual de Montes Claros, Minas Gerais, Brazil.
Lucyana
Conceição Farias
Department of Dentistry, Universidade Estadual de Montes Claros, Minas Gerais, Brazil.
Pathogenesis of odontogenic tumors is not well known. It is important to identify genetic deregulations and molecular alterations. This study aimed to investigate, through bioinformatic analysis, the possible genes involved in the pathogenesis of ameloblastoma (AM) and keratocystic odontogenic tumor (KCOT). Genes involved in the pathogenesis of AM and KCOT were identified in GeneCards. Gene list was expanded, and the gene interactions network was mapped using the STRING software. “Weighted number of links” (WNL) was calculated to identify “leader genes” (highest WNL). Genes were ranked by K-means method and Kruskal-Wallis test was used (P<0.001). Total interactions score (TIS) was also calculated using all interaction data generated by the STRING database, in order to achieve global connectivity for each gene. The topological and ontological analyses were performed using Cytoscape software and BinGO plugin. Literature review data was used to corroborate the bioinformatics data. CDK1 was identified as leader gene for AM. In KCOT group, results show PCNA and TP53. Both tumors exhibit a power law behavior. Our topological analysis suggested leader genes possibly important in the pathogenesis of AM and KCOT, by clustering coefficient calculated for both odontogenic tumors (0.028 for AM, zero for KCOT). The results obtained in the scatter diagram suggest an important relationship of these genes with the molecular processes involved in AM and KCOT. Ontological analysis for both AM and KCOT demonstrated different mechanisms. Bioinformatics analyzes were confirmed through literature review. These results may suggest the involvement of promising genes for a better understanding of the pathogenesis of AM and KCOT.
Babol University of Medical Sciences
International Journal of Molecular and Cellular Medicine (IJMCM)
2251-9637
5
4
2016
11
1
Cyclic AMP-induced p53 Destabilization is Independent of CREB in pre-B Acute Lymphoblastic Leukemia Cells
220
228
EN
Rima
Manafi Shabestari
Department of Hematology, Faculty of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
Majid
Safa
Department of Hematology, Faculty of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
Mehdi
Banan
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Ahmad
Kazemi
Department of Hematology, Faculty of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
Elevated cAMP levels in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) cells attenuate the doxorubicin-induced p53 accumulation and protect cells against apoptosis. cAMP responsive element binding protein (CREB) is a cAMP-stimulated transcription factor that regulates genes whose deregulated expression cooperatein oncogenesis. In the present study, we investigated the role of CREB on inhibitory effect of cAMP on apoptosis and p53 accumulation in BCP-ALLNALM-6 cells. To determine whether targeting CREB can modulate the effect of cAMP on doxorubicin-induced apoptosis, we knocked down CREB in NALM-6 cells using lentiviral CREB shRNA. Knocked down cells were treated with doxorubicin in the presence or absence of cAMP-elevating agents. p53 protein level and apoptosis were assessed by western blot analysis and flow cytometry, respectively.p53 protein expression was reduced in cells treated with combination of cAMP-elevating agents and doxorubicin in contrast to cells treated with doxorubicin alone even in CREB-knocked down cells. Apoptosis assay showed that the cAMP-elevating agents decreased doxorubicin-induced apoptosis in CREB-knocked down and control cells. CREB plays a particularly important role in cAMP signaling pathway. However, our data suggest that CREB does not mediate the inhibitory effect of cAMP on doxorubicin-induced apoptosis and p53 accumulation in BCP-ALL NALM-6 cells.
Babol University of Medical Sciences
International Journal of Molecular and Cellular Medicine (IJMCM)
2251-9637
5
4
2016
11
1
A Comparison Between the Effect of Cuminumcyminumand Vitamin E on the Level of Leptin, Paraoxonase 1, HbA1c and Oxidized LDL in Diabetic Patients
229
235
EN
Keihan
Ghatreh Samani
Clinical BiochemistryResearch Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Mohammad hossein
Gharib
Clinical BiochemistryResearch Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Ali
Momeni
Department of Internal Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Zohreh
Hemati
Shahrekord University of Medical Sciences, Shahrekord, Iran.
Roya
Sedighin
Shahrekord University of Medical Sciences, Shahrekord, Iran.
Diabetes is one of the most common metabolic diseases in the world. Vitamin E reduces protein glycation and improves insulin sensitivity, while cumin is effective in remission of diabetes. Therefore this study was designed to evaluate the effects of vitamin E and cumin essential oil, on the blood level of leptin,glycosylated hemoglobin (HbA1C) and also on lipid profile in diabetic patients.In this double blind clinical trial, 95 diabetic patients were selected and randomly dividedinto three groups.The first group received cumin essential oil in capsule form. The second group received Vitamin E, and the third group was used ascontrol receiving oral gelatin capsules as placebo for three months period.Blood glucose, lipid profile, apolipoprotein A1 (ApoA1), apolipoprotein B (ApoB), leptin, HbA1c, oxidized LDL (oxLDL), and paraoxonase1 activity were measured. The results showed reduction in oxLDL and significant increase in paraoxonase 1 in Vitamin E group by the end of the third month period (P<0.05). Cumin group showed decrease in blood glucose, HbA1C, triglyceride, leptin and ox-LDL. ApoA1 and paraoxonase1 were also increased by cumin treatment (P<0.05).Diabetic complications may have been reduced by intake of Vitamin E and cumin essential oil. Cumin in comparison with vitamin E has broader impact and it is more beneficial in terms of ability to reduce the diabetic index.
Babol University of Medical Sciences
International Journal of Molecular and Cellular Medicine (IJMCM)
2251-9637
5
4
2016
11
1
Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications
236
245
EN
Saghar
Ghasemi Firouzabadi
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Roshanak
Vameghi
Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Roxana
Kariminejad
Kariminejad- Najmabadi Pathology and Genetics Center, Tehran, Iran.
Hossein
Darvish
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Susan
Banihashemi
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Mahboubeh
Firouzkouhi Moghaddam
Child and Adolescent Psychiatry Department, Zahedan University of Medical Sciences, Zahedan, Iran.
Peyman
Jamali
Shahroud Welfare Organization, Shahroud, Iran.
Hassan
Farbod Mofidi Tehrani
Health Psychology Department, Edalat University, Tehran, Iran.
Hossein
Dehghani
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Mohammad Reza
Raeisoon
Psychiatry and Behavioral Science Research Center, Department of Social Medicine, Medicine Faculty, Birjand University of Medical Sciences, Birjand, Iran.
Mehrnaz
Narooie-Nejad
Genetics of Non- Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
Javad
Jamshidi
Non-Communicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
Abbas
Tafakhori
Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
Saeid
Sadabadi
Bahar Education and Rehabilitation Center for the handicapped, Tehran, Iran.
Farkhondeh
Behjati
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and MLPA to detect CNVs in 50 Iranian patients with autism. GTG banding and 4 different MLPA kits (2 subtelomeric and 2 autism kits) were utilized. To elevate our detection rate, we selected the sporadic patients who had additional clinical features including intellectual disability, seizure, attention deficit hyperactivity disorder, and abnormal head circumference. Two out of 50 patients (4%) showed microscopic chromosome abnormalities and 5 out of 50 (10%) demonstrated copy number gains or losses using MLPA kits. Including one overlapping result between karyotype and MLPA techniques, our overall detection rate was 6 out of 50 (12%). Three out of 6 CNVs were de novo and three others were paternally inherited. Two of CNVs detected by karyotyping and MLPA tests were 16p13.1q13.3 and 10q26.3 duplications, respectively. For these two CNVs genotype and phenotype of the patients were compared with other studies. Although the pathogenicity of cytogenetic results was certain, most of MLPA results needed to be better refined using other more accurate techniques such as array CGH. Our findings suggest that it might be possible to obtain some useful information using MLPA technique but it cannot be used as a single diagnostic tool for the autism.
Babol University of Medical Sciences
International Journal of Molecular and Cellular Medicine (IJMCM)
2251-9637
5
4
2016
11
1
Should We Perform Semen Analysis, DNA Fragmentation, and Hypo-osmotic Swelling Tests together?
246
254
EN
Samaneh
Hasanzadeh Keshteli
Department of Anatomical Sciences, School of Medicine, Babol University of Medical Sciences, Babol, Iran.
Mir Mehrdad
Farsi
Department of Anatomical Sciences, School of Medicine, Babol University of Medical Sciences, Babol, Iran.
Soraya
Khafri
Department of Biostatistics and Epidemiology, Babol University of Medical Sciences, Babol, Iran.
Semen analysis, sperm DNA fragmentation (SDF) and hypo-osmotic swelling test (HOST) are usually performed for the evaluation of sperm fertilizing ability. There are some debates over the necessity of SDF and HOST incorporation in male infertility work-up.Semen of 77 men was evaluated by SDF and HOST through three semen analyses. Sperm parameters were arranged into different categories: <5%, 5-15%, >15% for normal morphology; <50%, 50-70%, >70 % for motility; and <10, 10-20, 21-34, 35-50, >50 million/ml for concentration. SDF analysis was performed and values under 30% were assumed to be normal. Normal range of HOST was considered to be >60%.Only normal sperm morphology had significant relationship with DF rate (P<0.001). Normal morphology, motility, and concentration of sperms had significant relationship with HOST (P<0.001, 0.05, and <0.003,respectively). There was a significant negative correlation between sperm morphology and DF rate. The correlations between sperm parameters and percentage of HOST were significantly positive (r: 0.44, 0.19, and 0.32 for morphology, motility, and concentration, respectively). Receiver operating characteristic curve (ROC) showed that sperm morphology is a strong predictor of the rate of DF and HOST (accuracy: 0.74‚ and 0.81, respectively). The best sperm morphology cut off point for DF and HOST rate prediction was 4.5% and 5.5%, respectively.Sperm morphology had significant correlation with DF rate and HOST and is supposed to be a predictor for these tests. Performing these three tests collectively for evaluation of semen samples would not be necessarily required in all cases.
Babol University of Medical Sciences
International Journal of Molecular and Cellular Medicine (IJMCM)
2251-9637
5
4
2016
11
1
A Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
255
259
FA
Soudeh
Ghafouri-Fard
Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
Vahid Reza
Yassaee
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Alireza
Rezayi
Pediatric Neurology Department, Loghman Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Feyzollah
Hashemi-Gorji
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Nasrin
Alipour
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mohammad
Miryounesi
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthesis. Here we report two cases of classic PKAN syndrome with early onset of neurodegenerative disorder. Mutational analysis has brevealed that both are homozygous for a novel nonsense mutation in PANK2 gene (c.T936A (p.C312X)). The high prevalence of consanguineous marriages in Iran raises the likelihood of occurrence of autosomal recessive disorders such as PKAN and necessitates proper premarital genetic counseling. Further research is needed to provide the data on the prevalence of PKAN and identification of common PANK2 mutations in Iranian population.
Babol University of Medical Sciences
International Journal of Molecular and Cellular Medicine (IJMCM)
2251-9637
5
4
2016
11
1
A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family
260
263
EN
Shahram
Torkamandi
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Milad
Gholami
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Javad
Mohammadi asl
Ahvaz Jundishapour University of Medical Sciences, Ahvaz, Iran.
Somaye
Rezaie
Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
mohammad ali
Zaimy
Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Mir Davood
Omrani
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. Here we describe a novel acceptor splice site mutation c.730-2 A>G(IVS 8-2 A>G) in EDAR gene in homozygous form in all affected members of a family,and in heterozygous form in carriers. Bioinformatics analysis showed that this mutation can create a new broken splicing site and lead to aberrant splicing.