22 research outputs found
Tachyon Logamediate inflation on the brane
According to a Barrow's solution for the scale factor of the universe, the
main properties of the tachyon inflation model in the framework of RSII
braneworld are studied. Within this framework the basic slow-roll parameters
are calculated analytically. We compare this inflationary scenario against the
latest observational data. The predicted spectral index and the
tensor-to-scalar fluctuation ratio are in excellent agreement with those of
{\it Planck 2015}. The current predictions are consistent with those of viable
inflationary models.Comment: 6 pages,3 figures, the paper has been accepted by EPJ
Association between the polymorphism of CA dinucleotide repeat in intron 1 of NFκB1 gene and risk of breast cancer
زمینه و هدف: ژن NFκB1 زیر واحد اتصالی به DNA در کمپلکس NF-κB را کد میکند. تزاید بیان این ژن در برخی سرطانها از جمله سرطان پستان گزارش شده است. در این مطالعه، وجود پلیمورفیسم تکرار CA در اینترون یک ژنNFκB1 و ارتباط آن با خطر ابتلا به سرطان پستان در جمعیت اصفهان مورد بررسی قرار گرفت. روش بررسی: این مطالعهی مورد- شاهد، بر روی 115 زن مبتلا به سرطان پستان و 115 زن سالم صورت گرفت. پس از استخراج DNA از نمونههای خون افراد مورد مطالعه، توالی مورد نظر توسط واکنش زنجیرهای پلیمراز تکثیر گردید. در نهایت پلیمورفیسم تکرار CA توسط الکتروفورز قطعات تکثیر شده بر روی ژل پلیاکریلآمید و تعیین توالی مشخص شد. یافته ها: بر طبق نتایج حاصل از این مطالعه، نه الل مختلف تکرار CA در محدودهی 14 تا 23 تکرار در اینترون یک این ژن مشخص شد. بیشترین فراوانی اللی در هر دو گروه بیمار (27) و کنترل (28/69) متعلق به الل 16(CA) بود. با توجه به فراوانی الل کوتاه 14(CA) در افراد بیمار (3/04) و کنترل (0)، زنان حامل الل 14(CA) ژنNFκB1 به طور قابل توجهی در معرض خطر بالاتری برای ابتلا به سرطان پستان قرار دارند. نتیجه گیری: از آنجا که الل 14 تکرار CA تنها در افراد بیمار مشاهده شد و با توجه به نسبت افزاینده بزرگتر از هشت، ممکن است این تکرار اللی بتواند به عنوان یک مارکر پیشآگاهی سرطان پستان مورد استفاده قرار گیرد
Gold-Stock Market Relationship: Emerging Markets versus Developed Markets
We perform a comparative study on the gold-stock market relationship in U.S. stock market as a developed market and in Iran stock market as an emerging market. By considering appropriate variables for emerging markets and by providing a more proper methodology, we improve earlier studies. According to our findings, the relationship between stock market returns and gold price returns does not follow any specific regimes and that this relationship changes in short and long term returns. It is necessary to mention that in the present research, we did not consider this relationship in major structural changes in the economies and instead considered usual economic circumstances that investors are regularly faced with in their investment decisions
An overview on the evolution of language and genetics of speech disorders
Language, as an exclusive salient of human kind, is the requisite of development and formation of the human society; thus, it is at the topmost of human evolutionary features. Language and speech can be studied in various fields such as biology. Biolinguistics is an interdisciplinary field in which biological development of language is studied. It aims to find the functioning cycle in mind that enables humans to perceive the principles and bases of language. Language genetics, a subfield of biolinguistics, traces genetic factors in the formation and perception of language. Although a variety of theories have been introduced to explain the origins of language, considering recent studies, acquiring essential genetic abilities for speaking are undoubtedly of the most crucial necessities of this skill. Researchers have recently found defective genes in a wide spectrum of language disorders, through which they strongly confirm that speech systems rely on these genes to function properly. However, there is no report on a study which answers this question clearly: considering the origins of language and human evolution, is the proper function of genes, genetic structures, and general requirements necessary for speaking? The evolution of language and genetics of speech disorders along with the outstanding improvements and recent studies are discussed in this review article. © 2014, Isfahan University of Medical Sciences(IUMS). All rights reserved
RORA and Autism in The Isfahan Population: Is There An Epigenetic Relationship.
OBJECTIVE
Autism is a neurodevelopmental disorder characterized by difficulty in verbal and non-verbal communication, impaired social interaction, and restricted and repetitive behavior. It has been recently introduced as a multigenic disorder with significant epigenetic effects on its pathology. Recently, epigenetic silencing of retinoic acid receptor- related orphan receptor alpha (RORα) gene (which has an essential role in neural tissue development) was shown to have occurred in autistic children due to methylation of its promoter region. This may thus explain a significant part of the molecular pathogenesis of autism. Therefore, we aimed to confirm this finding by implementing a case-control (experimental) study in the population of Isfahan.
MATERIALS AND METHODS
The methylation status of a 136 bp sequence of a GpG island (encompassing 13 CpG sites) in the RORA promoter region (positions -200 to -64) as an experimental study was examined in the lymphocyte cells of 30 autistic children after sodium bisulfite treatment using the melting curve analysis-methylation (MCA-Meth) assay compared with normal children. Also, quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR) analysis was used to estimate the level of mRNA transcripts and to evaluate MCA-Meth analysis results.
RESULTS
This study revealed no methylation in the examined promoter regions in both autistic and normal children, with the melting curve of all studied samples being comparable to that of the non-methylated control. The results of MCA-Meth analysis were also consistent with qRT-PCR results. We therefore observed no significant difference in the levels of RORα transcripts in the blood lymphocytes between autistic and healthy children.
CONCLUSION
The methylation of the RORA promoter region may not be considered as a common epigenetic risk factor for autism in all populations. Hence, the molecular pathogenesis of autism remains unclear in the population investigated
Decoding the genetics of speech and language: Genetic insight into the functional elements
زمینه و هدف: مدت زمان مدیدی است که تصور می‌شود توانایی انسان برای کسب قابلیت زبان توسط ساختار ژنتیکی او کد می‌شود. با این حال، تنها به تازگی شواهد ژنتیکی متعددی برای اثبات اساس ژنتیکی احتمالی ِزبان در دسترس است. در طول دهه گذشته، واریانت‌های ژنتیکی مختلفی شناسایی شده‌اند که ممکن است افراد را به جنبه‌های مختلف اختلالات زبان مستعد کنند. اختلالات زبان و گفتار طیف گسترده‌ای از شرایط با فنوتیپ‌های هتروژن و همپوشان را پوشش می‌دهند که می‌توانند علل پیچیده‌ی ژنتیکی و محیطی داشته باشند. ر‌وش بررسی: در این مطالعه مروری، جستجوی نظام ‌مندی در پایگاه‌های الکترونیکی معتبر (Googlescholar, Pubmed, Sciencedirect و Scopus) انجام شد و مقالات انگلیسی مرتبط با موضوع به وسیله‌ی انتخاب کلمات کلیدی زبان، ژنتیک، ژن FOXP2، ژن‌های کاندید و غیره مورد جستجو و استخراج قرار گرفتند. یافته ‌ها: در این مقاله‌ی مروری، بحث می‌کنیم که چگونه شناسایی و مطالعه‌ی ژن‌های خاص، از جمله: FOXP2، CNTNAP2، FOXP1، DCDC2، DYX1C1، ROBO1، KIAA0319، ATP2C2، CMIP، CYP19A1، SRPX2، MRPL19، C2ORF3 و DOCK4، می‌تواند درک ما از سبب‌شناسی اختلالات تکلم و اساس بیولوژیکی اکتساب زبان را افزایش دهد. نتیجه ‌گیری: شناسایی ژن‌های مرتبط با فنوتیپ‌های زبان و تکلم، و توصیف عملکردهای طبیعی و نابجای این ژن‌ها در سال‌های اخیر، جزئیات پیچیده‌ی مکانیسم‌های مولکولی و شناختی را مشخص کرده و دیدگاه ارزشمندی از اساس بیولوژیکی زبان ارائه کرده است
RORA and Autism in Isfahan population: Is there an epigenetic relationship
Objective: Autism is a neurodevelopmental disorder characterized by difficulty in verbal and non-verbal communication, impaired social interaction, and restricted and repetitive behavior. It has been recently introduced as a multigenic disorder with significant epigenetic effects on its pathology. Recently, epigenetic silencing of retinoic acid receptorrelated orphan receptor alpha (RORα) gene (which has an essential role in neural tissue development) was shown to have occurred in autistic children due to methylation of its promoter region. This may thus explain a significant part of the molecular pathogenesis of autism. Therefore, we aimed to confirm this finding by implementing a case-control (experimental) study in the population of Isfahan. Materials and Methods: The methylation status of a 136 bp sequence of a GpG island (encompassing 13 CpG sites) in the RORA promoter region (positions - 200 to - 64) as an experimental study was examined in the lymphocyte cells of 30 autistic children after sodium bisulfite treatment using the melting curve analysis-methylation (MCA-Meth) assay compared with normal children. Also, quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR) analysis was used to estimate the level of mRNA transcripts and to evaluate MCA-Meth analysis results. Results: This study revealed no methylation in the examined promoter regions in both autistic and normal children, with the melting curve of all studied samples being comparable to that of the non-methylated control. The results of MCA-Meth analysis were also consistent with qRT-PCR results. We therefore observed no significant difference in the levels of RORα transcripts in the blood lymphocytes between autistic and healthy children. Conclusion: The methylation of the RORA promoter region may not be considered as a common epigenetic risk factor for autism in all populations. Hence, the molecular pathogenesis of autism remains unclear in the population investigated
Autism and Probable Prerequisites: Severe and Scheduled Prenatal Stresses at Spotligh
Background: Due to the importance of prenatal maternal stress as environmental factor on autism, the influ-ence of prenatal maternal psychological agitations was assessed in relation with the risk of autism.
Methods: In this case-control study, some mothers of autistic children in Isfahan, central Iran, in 2014, were retrospectively compared with control mothers in terms of quantity, quality, andschedule of exposure to 45 stressful events in a 15-month period. In addition, dividing the stressors into two groups of genome-dependent/independent events, their prevalence was separately scrutinized and compared among patient and control families.
Results: Although the child’s risk of autism increases significantly with the increase of maternal stress during months 4-7 of pregnancy, the increased stress during months 2-3 of pregnancy can lead to a significant increase in the severity of autism affliction as well as a slight but significant increase in the possibility of LFA in afflicted children (P<0.05). The overall prevalence of genome-dependent stressful events among two patient and control groups was significantly higher than that of genome-independent events (P=0.000), but genome-dependent events led to more stress inpatient families.
Conclusion: Although the present study consistent with recent findings in the fields of epigenetics and gene-environment interactions can confirm the role of severe and scheduled prenatal stresses in causing autism, it does not deny the necessity of a perspective and wider study in Isfahan and Iran
Formate overflow drives toxic folate trapping in MTHFD1 inhibited cancer cells
Cancer cells fuel their increased need for nucleotide supply by upregulating one-carbon (1C) metabolism, including the enzymes methylenetetrahydrofolate dehydrogenase-cyclohydrolase 1 and 2 (MTHFD1 and MTHFD2). TH9619 is a potent inhibitor of dehydrogenase and cyclohydrolase activities in both MTHFD1 and MTHFD2, and selectively kills cancer cells. Here, we reveal that, in cells, TH9619 targets nuclear MTHFD2 but does not inhibit mitochondrial MTHFD2. Hence, overflow of formate from mitochondria continues in the presence of TH9619. TH9619 inhibits the activity of MTHFD1 occurring downstream of mitochondrial formate release, leading to the accumulation of 10-formyl-tetrahydrofolate, which we term a 'folate trap'. This results in thymidylate depletion and death of MTHFD2-expressing cancer cells. This previously uncharacterized folate trapping mechanism is exacerbated by physiological hypoxanthine levels that block the de novo purine synthesis pathway, and additionally prevent 10-formyl-tetrahydrofolate consumption for purine synthesis. The folate trapping mechanism described here for TH9619 differs from other MTHFD1/2 inhibitors and antifolates. Thus, our findings uncover an approach to attack cancer and reveal a regulatory mechanism in 1C metabolism.In this study, Green, Marttila, Kiweler et al. characterize one-carbon metabolism rewiring in response to a dual MTHFD1 and MTHFD2 inhibitor. This work provides insight into one-carbon fluxes, and reveals a previously uncharacterized vulnerability in cancer cells created by folate trapping
A comparison of cell-free placental messenger ribonucleic acid and color Doppler ultrasound for the prediction of placental invasion in patients with placenta accreta
Background: The aim of the present study was to comparison between cell-free placental messenger ribonucleic acid (mRNA) and Doppler ultrasound for the prediction of placental invasion in women with placenta accreta.
Materials and Methods: In this cross-sectional study, 50 pregnant women at risk for placenta accreta underwent color Doppler and assessment of cell-free placental mRNA. Real-time reverse-transcription polymerase chain reaction was used for measurement of cell-free placental mRNA in maternal plasma. Based on the findings at cesarean delivery and histological examination, patients were divided into two groups of women with and without placenta accrete. To compare of the mean of mRNA levels between the two groups we used independent t-test and to compare of the mean of age and gestational age at sonography we used Mann-Whitney test. For determination of sensitivity and specificity and the cut-off point of mRNA levels we used the receiver operating characteristic curve.
Results: A total of 50 women with a mean age of 30.24 ± 4.905 years entered the study and 12 (24%) patients were diagnosed with placenta accreta. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of Doppler ultrasound were 83.3%, 78.9%, 56% and 94%, respectively. Results of our study showed if we consider a cut-off point equal to 3.325, with sensitivity and specificity of 0.917 and 0.789, respectively and the sensitivity, specificity, PPV and NPV of mRNA with were cut-off point of 3.325 were 91.7%, 78.9%, 57.9% and 96.8%, respectively.
Conclusions: Cell-free mRNA is an acceptable, easy made, functional test with sensitivity, specificity, PPV and NPV more than Doppler ultrasound for diagnosis and prediction of incidence of placenta accrete and we recommend the use of cell-free mRNA test for diagnosis of placenta accreta