2024-03-28T18:03:52+03:30 http://ijmcmed.org/browse.php?mag_id=35&slc_lang=en&sid=1
35-1141 2024-03-28 10.1002
International Journal of Molecular and Cellular Medicine (IJMCM) Int J Mol Cell Med 2251-9637 2251-9645 10.22088/IJMCM.BUMS 2019 8 4 Diagnostic Value of Plasma Long Non-coding RNA HOTTIP as a Non-invasive Biomarker for Colorectal Cancer ( A Case- Control Study) Soheila Ali akbar- Esfahani soheilaaa.esfahany@gmail.com Morteza Karimipoor mortezakarimi@yahoo.com Fatemeh Bahreini f.bahreini@yahoo.com Ali Reza Soltanian arsoltanian@yahoo.com Najme Aletaha dr.aletaha@gmail.com Ali Mahdavinezhad alimahdavin@gmail.com Long non-coding RNAs (lncRNAs) associated with various cancers, including colorectal cancer (CRC), could be collected from body fluids easily. Our aims were to determine the expression level of HOTTIP lncRNA in plasma samples of healthy individuals and CRC patients as well as their relationship with clinico-pathological characteristics of patients. First, total RNA was extracted from the plasma samples of 100 subjects including 50 patients and 50 age and sex matched healthy persons. Then, gene expression was measured using real-time PCR technique. The sensitivity and specificity of HOTTIP dysregulation in CRC and healthy individual’s plasma was measured by receiver operating characteristic (ROC) analysis. As compared with healthy controls, HOTTIP lncRNA was over expressed in a statistically significant manner in plasma samples of patients (P = 0.001). Significant relationship between HOTTIP expression and positive family history of CRC was observed, too (P = 0.04). The ROC curve analysis showed an AUC value of 0.775, a specificity of 82%, a sensitivity of 76%, with a cut off value equal to 2.40 (P = 0.001). HOTTIP transcript can be proposed as a new biomarker for early diagnosis due to the increased expression in plasma samples of patients with CRC and the relatively high sensitivity and specificity. Biomarker colorectal neoplasms long non-coding RNAs lncRNA HOTTIP 2019 11 01 240 246 http://ijmcmed.org/article-1-1141-en.pdf 10.22088/IJMCM.BUMS.8.4.240
35-1171 2024-03-28 10.1002
International Journal of Molecular and Cellular Medicine (IJMCM) Int J Mol Cell Med 2251-9637 2251-9645 10.22088/IJMCM.BUMS 2019 8 4 Association of MicroRNA-155 rs767649 polymorphism with Susceptibility to Preeclampsia Shymaa E. Ayoub ssa05@fayoum.edu.eg Olfat G. Shaker Olfatshaker@yahoo.com Mostafa Y. Abdelwahed mya01@fayoum.edu.eg Naglaa A. Ahmed naahmed@nu.edu.sa Hazem G. Abdelhameed Hazem.galal@rocketmail.com Almandouh H. Bosilah Msobhy7@yahoo.com Sheren R. Mohammed sherenKaddafy @yahoo.com Preeclampsia (PE) is a multifactorial disorder. Several studies showed that micro RNAs may play a critical role in PE pathogenesis. We aimed to investigate for the first time the association of mir-155rs767649 polymorphism with PE. Eighty patients with preeclampsia and 80 normal subjects were enrolled in the study. Serum expression levels of mature mir-155were evaluated using real-time PCR, and mir-155 rs767649 (T/A) polymorphism was genotyped using TaqMan SNP genotyping. There was a significant difference between the expression level of mir-155 in cases (5.86 ± 3.11) in comparison with controls (0.58 ± 0.30) (P<0.0001). Also,the minor allele of rs767649 was significantly associated with increased risk of PE [Recessive model: adjusted Odds ratio (OR) = 5.240, 95% confidence interval (CI) = (1.999-13.733),P= 0.001]. There was a significant difference between different genotypes according to expression levels of mir-155 in PE (P<0.0001) with high expression levels in TA genotype (7.10 ± 3.11 ). Mir-155 may play a critical role in PE pathogenesis. The obtained data suggest that a minor allele of rs767649 might be a predisposing factor for PE. MicroRNA mir-155 single nucleotidepolymorphism preeclampsia 2019 11 01 247 257 http://ijmcmed.org/article-1-1171-en.pdf 10.22088/IJMCM.BUMS.8.4.247
35-1198 2024-03-28 10.1002
International Journal of Molecular and Cellular Medicine (IJMCM) Int J Mol Cell Med 2251-9637 2251-9645 10.22088/IJMCM.BUMS 2019 8 4 Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor Tahere Nazari Tahereh_nazary@yahoo.com Ali Rashidi-Nezhad ali_rashidinejad@yahoo.com Maziar Ganji maziar.ganji92@gmail.com Zahra Rezaei Rezaei.genetic@gmail.com Saeed Talebi talebisaid@yahoo.com Nasrin Ghasemi n479g@yahoo.co.uk Javad Tavakkoly Bazzaz tavakkolybazzazj@tums.ac.ir The acetylcholine receptor (AChR) is a member of the superfamily of transmitter-gated ion channels having a critical role in controlling electrical signals between nerves and muscle cells. Disruptive mutations in genes encoding different subunits of AChR result in multiple pterygium syndrome (MPS), which can be associated with a severe prenatally lethal presentation. This study aimed to investigate the etiology of lethal MPS (LMPS) in two consanguineous families with a history of miscarriages. DNA was extracted from a tissue sample of two aborted fetuses (probands) from two different families with a history of spontaneous miscarriages. Parental peripheral blood samples were collected for confirmatory analysis and follow-up testing. Whole-exome sequencing (WES) was performed on DNA from the probands. The results were confirmed and segregated by Sanger sequencing. Moreover, protein structure evaluations were accomplished. We identified a homozygous frameshift mutation of c.753_754delCT (p.V253fs*44) and a homozygous missense mutation of c.715C>T (p.Arg239Cys) in the CHRNG gene. Both aborted fetuses had pterygium, severe arthrogryposis, and fetal hydrops with cystic hygroma, being compatible with LMPS. The heterozygous state was confirmed in parents for both CHRNG variants. Likewise, CHRNG mutation was predicted to display the damaging effects by lowering the number of helixes and modifying the surface electrostatic potential. The present study identified rare sequence variants in the CHRNG gene in aborted fetuses from consanguineous couples with recurrent miscarriage history. WES is a comprehensive and cost-effective approach to study heterogeneous diseases including MPS. Such findings can improve our knowledge of MPS databases, particularly for genetic counseling of high-risk families and preimplantation genetic diagnosis. Multiple pterygium syndromes whole-exome sequencing CHRNG recurrent abortion 2019 11 01 258 270 http://ijmcmed.org/article-1-1198-en.pdf 10.22088/IJMCM.BUMS.8.4.258
35-1222 2024-03-28 10.1002
International Journal of Molecular and Cellular Medicine (IJMCM) Int J Mol Cell Med 2251-9637 2251-9645 10.22088/IJMCM.BUMS 2019 8 4 A Cardiac Troponin T Biosensor Based on Aptamer Self-assembling on Gold Masoud Negahdary masoudnegahdary@yahoo.com Mostafa Behjati-Ardakani dr_behjati@yahoo.com Hossein Heli hheli7@yahoo.com Naghmeh Sattarahmady nsattar@sums.ac.ir In this study, a sensitive and accurate aptasensor was designed for early detection of myocardial infarction through the determination of troponin T (TnT). The successful immobilization of a specific aptamer sequence on the surface of gold that had a high affinity toward TnT was accomplished. TnT was electrochemically quantified. The results indicated that the aptasensor detected TnT in a range of 0.05-5 ng mL and with a detection limit of 0.01 ng/mL. The performance of the aptasensor was investigated by analyzing 99 human serum samples. Both diagnostic specificity and sensitivity of the aptasensor were found to be 95%. The use of the designed aptamer-based biosensor could be an essential achievement in health policy, preventing deaths caused by myocardial infarction, and reducing patients with heart failure. The extensive use of this aptamer-based biosensor can also reduce costs, enhance speed, and improve accuracy in the diagnosis of TnT as an important myocardial infarction biomarker. Myocardial infarction aptasensing biomarker bioelectrochemical detection 2019 11 01 271 282 http://ijmcmed.org/article-1-1222-en.pdf 10.22088/IJMCM.BUMS.8.4.271
35-1215 2024-03-28 10.1002
International Journal of Molecular and Cellular Medicine (IJMCM) Int J Mol Cell Med 2251-9637 2251-9645 10.22088/IJMCM.BUMS 2019 8 4 Proliferation, Characterization and Differentiation Potency of Adipose Tissue-Derived Mesenchymal Stem Cells (AT-MSCs) Cultured in Fresh Frozen and non-Fresh Frozen Plasma Wahyu Widowati wahyu_w60@yahoo.com Rachmawati Noverina ayoex.wireni@yahoo.com Wireni Ayuningtyas ayoex.wireni@yahoo.com Dedy Kurniawan rudededy@gmail.com Hanna Sari Widya Kusuma hannasariw@amubbrc.co.id Seila Arumwardana seila.wardana91@gmail.com Dwi Surya Artie artie.dwisurya@gmail.com Ika Adhani Sholihah ikaadhani18@gmail.com Rr. Anisa Siwianti Handayani anisa.siwi@gmail.com Dian Ratih Laksmitawati dianratih.ffup@gmail.com Ratih Rinendyaputri ratihr79@yahoo.com Rilianawati Rilianawati liliaabbas@gmail.com Ahmad Faried faried.fkup@gmail.com Mesenchymal stem cells (MSCs) have unique properties, including high proliferation rates, self-renewal, and multilineage differentiation ability. Their characteristics are affected by increasing age and microenvironment. This research aimed to determine the proliferation, characteristics and differentiation capacity of adipose tissue-derived (AT)-MSCs at many passages with different media. The cell proliferation capacity was assayed using trypan blue. MSCs characterization (CD90, CD44, CD105, CD73, CD11b, CD19, CD34, CD45, and HLA-DR) was performed by flow cytometry, and cell differentiation was determined by specific stainings. Population doubling time (PDT) of AT-MSCs treated with fresh frozen plasma (FFP) and non-FFP increased in the late passage (P) (P15 FFP was 22.67 ± 7.01 days and non-FFP was 19.65 ± 2.27 days). Cumulative cell number was significantly different between FFP and non-FFP at P5, 10, 15. AT-MSCs at P4-15 were positive for CD90, CD44, CD105, and CD73, and negative for CD11b, CD19, CD34, CD45, and HLA-DR surface markers. AT-MSCs at P5, 10, 15 had potential toward adipogenic, chondrogenic, and osteogenic differentiation. Therefore, PDT was affected by increased age but no difference was observed in morphology, surface markers and differentiation capacity among passages. Cumulative cell number in FFP was higher in comparison with non-FFP in P5, 10, 15. Our data suggest that FFP may replace FBS for culturing MSCs. AT-MSCs multilineage differentiation PDT proliferation surface marker 2019 11 01 283 293 http://ijmcmed.org/article-1-1215-en.pdf 10.22088/IJMCM.BUMS.8.4.283
35-1116 2024-03-28 10.1002
International Journal of Molecular and Cellular Medicine (IJMCM) Int J Mol Cell Med 2251-9637 2251-9645 10.22088/IJMCM.BUMS 2019 8 4 AMELX Gene Association with Dental Caries in Iranian Adults Fatemeh Koohpeima koohpeima.f@gmail.com Maryam Derakhshan allahyari.mahmood@yahoo.com Mohammad Javad Mokhtari mj.mokhtari@gmail.com Dental decay is a disease that is greatly affected by environmental components, but recently there have been an increasing number of documents supporting a genetic factor in the development of caries. The purpose of this study was to examine the association between dental caries and single-nucleotide polymorphisms in the AMELX gene. This research was carried out on 360 individuals of both sexes, who were referred to the dental school at the Shiraz University of Medical Sciences. In this research, individuals aged from 20–65 years were divided into two groups: controls (decayed, missed, or filled teeth (DMFT) ≤ 5; n = 180) and cases (DMFT ≥ 14; n = 180). The tetra-primer ARMS-PCR technique was performed for genotyping the DNA extracted from blood cells. Analysis of the AMELX rs946252 polymorphism showed that the T allele of rs946252 was a significant protective factor against dental caries in Iranian adults (T vs. C: OR = 0.70, 95% CI: 0.49–0.98, P = 0.04). We demonstrated the significant differences in the genotype frequencies under two genetic models: overdominant (TC vs. TT + CC: OR 0.35, 95% CI 0.19–0.64, P = 0.0006) and recessive (CC vs. TC + TT: OR 2.57, 95% CI 1.39–4.76, P = 0.002). Our results show that the SNPs of the AMELX gene may be related with susceptibility to dental caries in Iranian adults. Dental caries DMFT AMELX rs946252 Tetra-primer ARMS-PCR 2019 11 01 294 299 http://ijmcmed.org/article-1-1116-en.pdf 10.22088/IJMCM.BUMS.8.4.294
35-1161 2024-03-28 10.1002
International Journal of Molecular and Cellular Medicine (IJMCM) Int J Mol Cell Med 2251-9637 2251-9645 10.22088/IJMCM.BUMS 2019 8 4 Post-Mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child Fatemeh Tahghighi f-tahghighi@sina.tums.ac.ir Nima Parvaneh nparvaneh@sina.tums.ac.ir Vahid Ziaee Ziaee@tums.ac.ir Heme oxygenase-1 (HO-1) is an inducible enzyme involved in the catalysis of heme conversion into biliverdin. We describe a patient with a novel stop-gain mutation in the HMOX1 coding sequence resulting in HO-1 deficiency.   Hemeoxygenase-1 deficiency post-mortem diagnosis HO-1 gene Iranian child 2019 11 01 300 306 http://ijmcmed.org/article-1-1161-en.pdf 10.22088/IJMCM.BUMS.8.4.300