Journal of Human Genetics and Genomics最新文献

{"title":"Investigation of the Relationship Between Polymorphism in miR-34b/c and Risk of Alzheimer's Disease","authors":"Mahshid Deldar Abad Paskeh, Z. Salehi, A. Ghayeghran","doi":"10.5812/jhgg-123627","DOIUrl":"https://doi.org/10.5812/jhgg-123627","url":null,"abstract":": The significant role of microRNAs (miRNAs) in gene expression regulation has been demonstrated. Changes in the expression of miRNAs have been reported in a variety of neurological diseases. However, the role of miR-34b/c in the risk of Alzheimer's disease has been less studied. Therefore, the current study aims to investigate the relationship between miR-34b/c polymorphism and the risk of Alzheimer's disease. This study was performed with 40 Alzheimer's patients and 40 controls. Using the polymerase chain reaction technique to investigate polymorphisms in the miR-34b/c gene. The results of this study indicated an association between miR-34 b/c polymorphisms and the risk of Alzheimer's disease.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"39 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123115719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differentiation of Mesenchymal Stem Cells Derived from Amniotic Membrane to Neuronal Cells and the expression of PAX2 and NURR1 Genes","authors":"Nooshin Barikrow, Javaneh Khosravi","doi":"10.5812/jhgg-122860","DOIUrl":"https://doi.org/10.5812/jhgg-122860","url":null,"abstract":": Mesenchymal stem cells (MSCs) have different sources, including bone marrow, adipose tissue, umbilical cord, amniotic fluid, and amniotic membrane. They have immunomodulatory properties. These cells can be used for the treatment of many neurological diseases such as Parkinson’s and Alzheimer’s disease. In this study, MSCs were isolated from the amniotic membrane, and their surface markers were investigated using flow cytometry. MSCs were differentiated to osteoblasts, adipocytes, and finally, to the nerve cells under the influence of epidermal, basic fibroblast natural growth factors, and two other media. The first medium included indomethacin, butyric acid, and ascorbic acid. The second one included retinoic acid and ascorbic acid. The expression of paired box gene 2 (PAX2) and nuclear receptor related-1 (NURR1) genes were investigated using real-time polymerase chain reaction and showed higher levels than that of controls. The presence of the expression of β-tubulin III and microtubule-associated protein 2 (MAPII) was studied by immunocytochemistry. The result suggested that the second medium included retinoic acid was better than the first medium. Protecting neurons are important in neurological diseases, and the expression of mRNAs such as PAX2, NURR1, β-tubulin III, and MAPII plays an effective role in neural differentiation.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"8 7","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120931677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect oF TiO2 Nanoparticles and Curcumin on Sperm Parameters in Response to Temperature-Induced Stress in Scrotal Hyperthermia Rats: Role of miR455","authors":"M. Mollaei, M. Hashemi, E. Siasi, Sayeh Jafari Marndi, M. Entezari","doi":"10.5812/jhgg-122290","DOIUrl":"https://doi.org/10.5812/jhgg-122290","url":null,"abstract":"Background: Temperature changes cause testicular dysfunction. It has been observed that testicular hyperthermia leads to oxidative stress and as a result a severe reduction in testicular parameters. Causes a severe reduction in Sperm parameters to become oxidative due to stress. Recently, natural plant materials and magnetic nanoparticles have been considered. In the internal mitochondrial apoptosis pathway, gen bcl2 is a target of miR455. Objectives: The present study aimed to investigate the effects of titanium dioxide nanoparticles and improve their impacts by using the antioxidant curcumin on sperm parameters by investigating changes in expression miR455 in response to temperature-induced stress in scrotal hyperthermia rats. Methods: After preparation, the rats were placed in a hot water bath at 43°C. for 30 minutes for six consecutive days. The rats were then divided into eight groups. We used TiO2 nanoparticles at a concentration of 0.03 mg/kg of body weight and curcumin at a concentration of 0.02 mg/kg of body weight. After killing the animals, such parameters of sperm as viability, concentration, motility, and morphology of spermatozoa were studied. RNA extraction and cDNA synthesis were performed using appropriate kits. A gene primer was designed and RT-PCR was used to assess gene expression. The t-test and ANOVA were used to examine differences between different groups. Data analysis was performed using Prism8 software and SPSS version 26. Results: The results showed that miR455 expression was lower in the treatment groups and was associated with curcumin (P < 0.05). A positive effect of curcumin on improving sperm parameters in rats with scrotum hyperthermia and a negative and toxic effect of TiO2 nanoparticles were shown. However, a significant improvement in sperm parameters was observed when rats were given TiO2 nanoparticles along with curcumin. Conclusions: The changes in the expression miR455, shown in curcumin have controlled the damage to TiO2 nanoparticles. It seems that miRNA455 can be used as a marker to predict sperm health status. So Curcumin can play a protective role in reducing the toxic effects of testicular hyperthermia as well as titanium dioxide nanoparticles.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132350062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Extremely Low Frequency Electromagnetic Fields Alter Expression of C-Myc and circ-CCDC66 in Gastric Cancer Cell Line","authors":"Fereshteh Mansoury, Soheila Abdi, N. Babaei, M. Entezari, A. Doosti, H. Mohammadpour, Fatemeh Mashayekhi","doi":"10.5812/jhgg-123249","DOIUrl":"https://doi.org/10.5812/jhgg-123249","url":null,"abstract":": The biological effects of electromagnetic fields (EMF), in particular their beneficial or adverse impacts on the promotion and progression of cancer, have attracted considerable attention. C-Myc has a critical regulatory role in cell transformation and causes metabolic changes, that accompany malignant transformation. Observations have shown that c-Myc expression can be altered by circular RNAs (circRNA). In this study, the changes in the expression of c-Myc and circ-CCDC66 in the AGS cell line after the extremely low-frequency magnetic fields (ELF-MF) exposure were investigated. The AGS cells were exposed to different magnetic flux densities for 18 h, continuously and discontinuously (2h on/2h off). To evaluate the expression changes of c-Myc and circ-CCDC66 real-time PCR was used. The results showed that discontinuous magnetic fields could reduce c-Myc expression. Continuous exposure of 0.25 mT could reduce the c-Myc expression, but with increasing the magnetic flux density c-Myc was upregulated. The expression level of circ-CCDC66 decreased under exposure to continuous and discontinuous ELF-MFs. The difference between the results of c-Myc under the influence of magnetic fields may be described by the hypothesis of the window effect of the fields. Our results indicated that ELF-MFs can induce changes in c-Myc and circ-CCDC66 expression.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"87 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127497925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reconstruction and Evaluation of Co-expression Network of Genes Encoding Proteins in Gastric Cancer","authors":"Fazlollah Mirzaeinasab, Y. Seyedena, N. Hosseinkhan, A. Majd, M. Hashemi","doi":"10.5812/jhgg.122359","DOIUrl":"https://doi.org/10.5812/jhgg.122359","url":null,"abstract":"Background: Gastric cancer is the second leading cause of cancer-related deaths worldwide. Computational studies of cancers facilitate understanding of the cancer development pathogenic process and lead researchers to discover efficient molecular biomarkers suitable for the prognosis or early detection of gastric cancer. In cancer systems, biology researchers seek to find the cellular mechanisms of cancer with a focus on the systemic perspective. It is not just a gene, a protein, a metabolite, or any other biological factor; it is how each of these factors works in a complex system with others and tries to look at the system behavior of each factor. Methods: In this study, 411 samples of gastric cancer and 35 samples of healthy individuals’ gene expression data were collected based on search results in the TCGA database. Then we normalized and filtered the input genes. After analyzing weighted gene co-expression networks, the resulting modules became candidates for enrichment analysis and literature review. Results: Examination of the results obtained from the reconstruction and analysis of gastric cancer weighted gene co-expression network led to the discovery of pink and blue modules. Then, the genes consisting of that module were enriched through the KEGG, EnrichR, and ToppGene databases. Some of these genes, such as DMB, CD6, CD8A, CDC45, and CDC20 are known to be involved in inflammation, cell cycle, and tissue damage in cancer, and some of these other genes are less commonly reported in scientific studies. Conclusions: We can select these candidate genes as potential biomarkers to determine the prognosis and even early detection of the clinical treatment.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"42 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122871980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis Variants of the CFTR Gene in Iranian Cystic Fibrosis Patients","authors":"Helal Nemat Farahzadi, M. Akbari","doi":"10.5812/jhgg.123474","DOIUrl":"https://doi.org/10.5812/jhgg.123474","url":null,"abstract":"Background: Cystic fibrosis (CF) is known as one of the most common autosomal recessive disorders, which is caused by mucosal glands. A deficiency in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which encodes a chloride channel, triggers damage to epithelial cells in respiratory ducts, pancreas, intestine, genital ducts in males, liver system, and sweat glands Objectives: The aim of this study was to complete sequencing of the 27 exons of the CFTR gene to screen the spectrum of the variants in patients from all over Iran from different ethnicities. Methods: This is a descriptive-analytical study that was performed during eleven years from 2010 to 2021. 345 patients were referred to Tehran Medical Genetics Laboratory by specialists. These patients were categorized into four groups. The first group included clinically confirmed patients of CF, having clinical features and biochemical abnormalities, plus positive sweat chloride test. The second group included couples with an alive or deceased child affected. The third group included CBAVD (congenital bilateral absence of the vas deferens) cases, and the fourth group included prenatal diagnosis who looking for carrier detection or her spouse is affected with CBAVD. Results: Fifty-four variants and five deletions were found from 345 patients, the most common frequent variant were c.1521_1523delCTT ([delta]F508) (47 (6.81%)), c.1000C>T (R334W, 31 (4.45%)), c.1911delG (2043delG, 25 (3.62%)), c.2051_2052delAAinsG (2183AA->G, 15 (2.17%)), c.1624G>T (G542X, 12 (1.74%)), c.1697C>A (A566D, 12 (1.74%)), c.1210-12T [5] (9(1.30%)) and c.3196C>T (R1066C,7 (1.01%)) respectively and frequency of other variants were less than 1%. Deletion in some exons was established by MLPA assay, the most common deletion was c. (53+1_54-1) _ (164+1_165-1) del (CFTRdele2, 7 (1.01%)). Conclusions: In conclusion, the present study improves the knowledge of CF in Iran with respect to carrier analysis, and genetic counselling. Also, it helps to develop a cost-effective newborn screening program.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131039882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"β-carotene Has the Neuroprotective Effects in Parkinson's Disease by Regulating Mitochondrial Apoptotic Pathway Genes","authors":"B. Jamali, M. Entezari, N. Babaei, M. Hashemi, M. Heidari","doi":"10.5812/jhgg.122531","DOIUrl":"https://doi.org/10.5812/jhgg.122531","url":null,"abstract":"Background: Parkinson's disease (PD) is one of the most common neurodegenerative diseases that cause disability. Finding treatment options that have no side effects can be very important. Objectives: Therefore, in this study, the effect of β-carotene administration was investigated in the PD model of rats. Methods: Induction of Parkinson's disease in rats was done by injection of 6-hydroxydopamine (6-OHDA) into the substantia nigra (SN). After induction rat behaviour was studied using an apomorphine-induced rotation test. The SN cells viability was evaluated by MTT assay and apoptosis and necrosis were measured by flow cytometry. The expressions of bax and bcl-2 genes were also studied using RT-PCR technique. Data analysis was done by GraphPad Prism V.8 software. Results: The results showed a positive effect of β-carotene administration in PD rats, which led to improvement in apomorphine-induced rotation test, increased viability and decreased apoptosis and necrosis of SN neurons. It also downregulated bax and overexpressed bcl-2 gene expressions (P < 0.01). Conclusions: In general, it was concluded that β-carotene has therapeutic effects in PD conditions and its mechanism of action was attributed to regulating the expressions of genes involved in mitochondrial apoptosis. Therefore, its study in a clinical setting is recommended.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123152565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of GJB2 Variants in 75 Unrelated Iranian Autosomal Recessive Non-Syndromic Hearing Loss Patients","authors":"Fatemeh Bitarafan, S. Y. Seyedena, M. Mahmoudi, M. Garshasbi","doi":"10.5812/jhgg.122732","DOIUrl":"https://doi.org/10.5812/jhgg.122732","url":null,"abstract":"Background: Hearing loss (HL) is the most prevalent sensory disease in humans. HL is among the most clinically and genetically heterogeneous disorders. Pathogenic variants in GJB2 are the main cause of HL in many populations. Therefore, GJB2 analysis should be considered as the first step for HL. Objectives: This study aimed to find causative variants in the GJB2 gene in 75 unrelated Iranian patients who suffered from Autosomal recessive non-syndromic hearing loss (ARNSHL). Methods: Peripheral blood samples were used for genomic DNA extraction. PCR-direct sequencing was performed to detect GJB2 mutations. Results: In this study, thirty-four chromosomes (21.33%) carried GJB2 mutations. In total, 10 variants in 19 cases were detected. Seven cases were homozygous for c.35delG; (p.Gly12Valfs*2), two were homozygous for c.71G>A; (p.Trp24*), two were homozygous for c.358-360delGAG (p.Glu120del), and two were homozygous for c.-23+1G>A mutations. One patient was a compound heterozygote for c.35delG and c.-23+1G>A mutation, and another patient with compound heterozygosity for c.290dupA and c.235delC mutations were determined. Four patients carried a mono-allelic variant in the GJB2 including c.126G>T; (p.Glu42Asp), c.23C>T; (p.Thr8Met), c.445G>A; (p.Ala149Thr) and c.269T>C; (p.Leu90Pro). Accordingly, c.35delG mutation was the most common variant in this study. Conclusions: Finding common variants of HL mutations in different populations can elevate the diagnostic value of molecular testing in the screening of affected individuals, and can improve counselling to minimize the risk of having affected offspring for at-risk couples. Besides, early diagnosis can easily lead to speech development and prevents further problems.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129345739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TMPRSS2 As an Influential Human Gene for COVID-19","authors":"Sepideh Abdollahi, P. Izadi","doi":"10.5812/jhgg.119384","DOIUrl":"https://doi.org/10.5812/jhgg.119384","url":null,"abstract":": In December 2019, the new virus, COVID-19, emerged and led to a pandemic respiratory acute disease. Almost all countries have experienced different rates of morbidity and mortality. These differences can be attributed to factors such as a diagnostic test capacity for COVID-19 and the health system efficiency. Besides the differences between countries related to the COVID-19 management, different patients represent a diverse range of clinical symptoms, from outpatient to patients admitted to the intensive care unit (ICU) due to the severity of symptoms. To gain deeper insights into such disparities in the severity of COVID-19 clinical presentations, epidemiological studies have reported risk factors such as old age, male sex, underlying chronic diseases such as diabetes, inflammatory and cardiovascular diseases, which have a bearing on susceptibility to COVID-19. In addition to these risk factors, the molecular mechanism involved in the virus entry process has been under investigation. Apart from a well-known protein called ACE2 (angiotensin-converting enzyme 2), which plays the receptor role for COVID-19, another essential protein in this pathway is TMPRSS2 (transmembrane protease, serine 2). This protease has a crucial role in effective membrane integration between the virus and the target cell. This process can affect the severity of the infection and the mortality rate of the disease. Thus, it seems that understanding the role of TMPRSS2 in COVID-19 infection can help better management by designing TMPRSS2 inhibitors drugs. Given the variants of the TMPRSS2 gene, which are associated with the severity of symptoms, people exposed to severe forms of this disease can be identified before the deterioration of the disease to adopt appropriate therapeutic approaches. Therefore, this study focused on the different levels of the TMPRSS2 interactions with COVID-19 virus and disease severity.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122178020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating Differential Expression of mTOR1/UCA1 in Tumor Samples of Colorectal Cancer Compared with Tumor Marginal Samples","authors":"M. Alamdar, M. Sadeghizadeh","doi":"10.5812/jhgg.117855","DOIUrl":"https://doi.org/10.5812/jhgg.117855","url":null,"abstract":"Background: Colorectal cancer (CRC) is the second and third most common cancer in men and women respectively, and the fourth cause of cancer death of individuals. Mutations in specific genes can lead to colorectal cancer. UCA1 is one of the oncogenic genes that have been shown to stimulate cell proliferation. mTOR1 is another gene that leads to the growth of cancer cells through anabolic processes and autophagy inhibition. Objectives: In this study, we evaluate the expression of these two genes in different phases of CRC, that helps the early detection of colorectal cancer which can increase the survival rate. Methods: First, we collected 25 colorectal cancer tumor tissues and 25 adjacent normal tissues as a control group. Then, RNA was extracted from tissue samples and cDNA synthesized. The UCA1 and mTOR1 expression was evaluated in CRC tissues compared to adjacent normal tissues by Real Time PCR. Results: Our results showed that the UCA1 and mTOR1 expression in the tumor tissues was significantly higher than in the adjacent normal tissues (P < 0.05). There was also a significant difference in Lynph inv and Vescu inv with mTOR1 expression (P < 0.05). Conclusions: Our results showed that UCA1/mTOR1 may be important genes involved in colorectal cancer. mTOR1 was also identified as one of the possible genes in metastasis of colorectal cancer. Thus, UCA1 and mTOR1 can probably be considered as biomarkers in CRC therapy and diagnosis.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127711167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}