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Journal of Gene Medicine

Jing Chen, Yan Qi, Cui-Fang Liu, Jing-Min Lu, Yan Shi
INTRODUCTION: MicroRNAs have been increasing prevalent due to the association of their deregulation with neurodegenerative disorders, especially Alzheimer's disease (AD). However, the association between miRNAs and AD hasn't been made clear. PURPOSE: In this study, Nine representative miRNA datasets were selected for the identification of the critical miRNAs by analyzing the overlap relations among them. TargetScan software was further used to predict the target genes of these miRNAs...
March 15, 2018: Journal of Gene Medicine
Monica Juneja, Uzma Shamim, Aditi Joshi, Aradhna, Bharathram Uppili, Smitha Sairam, Sakshi Ambawat, Rashmi Dixit, Mohammed Faruq
INTRODUCTION: Mutations in SLC39A14 have recently been known to cause a recessive disorder of manganese metabolism that manifest as childhood onset progressive neurodegeneration characterized by parkinsonism and dystonia. AIM: To genetically investigate a case of hypermanganesemia. RESULTS: We describe a family where an affected child with history of progressive neurodegeneration showed symptoms of dystonia with increased levels of blood manganese and altered signal intensities in globus pallidus and dentate nucleus...
March 2, 2018: Journal of Gene Medicine
Shing Cheng Tan
AIMS: Colorectal cancer is a leading form of cancer in both males and females. Early detection of individuals at risk of colorectal cancer allows proper treatment and management of the disease to be implemented, which can potentially reduce the burden of colorectal cancer incidence, morbidity and mortality. In recent years, the role of genetic susceptibility factors in mediating predisposition to colorectal cancer has become more and more apparent. This review comprehensively consolidates the recent progresses in the identification of high-frequency, low-penetrance genetic polymorphisms associated with colorectal cancer...
February 8, 2018: Journal of Gene Medicine
A V Bruter, O F Kandarakov, A V Belyavsky
BACKGROUND: Gene therapy and cell modification for clinical applications using plasmid vectors are considered to be a safe and promising strategy. One of the major problems with plasmid vector-based constructs is a rapid decline of transgene expression in cells in vitro and in vivo. An important role of CpG motifs or bacterial vector backbone in expression silencing has been suggested earlier. METHODS: To address the effects of CpG motifs on transgene expression maintenance in stem cells in vitro, we constructed a novel pMBR2 plasmid vector containing 13 CpG motifs only...
February 8, 2018: Journal of Gene Medicine
Pratheppa Rajagopal, Sowmiya Duraiswamy, Swaminathan Sethuraman, Giridhara R Jayandharan, Uma Maheswari Krishnan
AIM: The advantages and critical aspects of nano-dimensional polymer-coated viral vector systems potentially applicable for gene delivery are reviewed in this article. DISCUSSION: Various viral and non-viral vectors have been explored for gene therapy. Viral gene transfer methods though highly efficient, are limited by their immunogenicity. Non-viral vectors have lower transfection efficiency due to their inability to escape from the endosome. To overcome these drawbacks, novel nanotechnology-mediated interventions that involve coating or modification of virus using polymers have emerged as a new paradigm in gene therapy...
February 8, 2018: Journal of Gene Medicine
Maya Gulubova, Elina Aleksandrova, Tatyana Vlaykova
INTRODUCTION: Anti-inflammatory cytokines such as interleukine-10 (IL-10) and the transforming growth factor beta-1 (TGF-®1) have a complex role in the development of colorectal cancer (CRC). Dendritic cells (DCs) are the cellular component of the inflammatory microenvironment in the tumor and infiltration of tumors by DCs is associated with better prognosis and fewer metastases. AIMS: In the current study we aimed to explore the role of two single nucleotide polymorphisms (SNPs) in the promoter regions of TGFB1 and IL10 genes and their associations with infiltrating DCs in CRC...
January 31, 2018: Journal of Gene Medicine
Xiaofeng Wen, Yu Liu, Qi Yan, Minling Liang, Miao Tang, Ran Liu, Jianying Pan, Qiuhui Liu, Tingting Chen, Shixin Guo, Juanran Liang, Lin Lu, Xiaoyan Ding, Wei Chen, Lai Wei
BACKGROUND: Polypoidal choroidal vasculopathy (PCV) and neovascular age-related macular degeneration (nAMD) share similar phenotype but are different in clinical manifestations, responses to treatment, and prognosis. Whether PCV is a subtype of AMD or a distinct entity from nAMD remains elusive. Therefore, we performed a whole-exome sequencing (WES) based association analysis to compare the genetic architecture of PCV and nAMD in Han Chinese. METHODS: Whole-exome sequencing analysis was performed on 21 nAMD cases, 20 PCV cases and 20 healthy controls...
January 11, 2018: Journal of Gene Medicine
Yi-Dong Chen, Nasha Zhang, Xiao-Guang Qiu, Jupeng Yuan, Ming Yang
BACKGROUND: How germline single nucleotide polymorphisms are involved in the etiology of medulloblastoma remans poorly understood. We hypothesized that CCDKN2A/B rs1063192 and rs4977756 and also the long noncoding RNA (lncRNA) CDKN2BAS rs2157719 glioma susceptibility polymorphisms identified by genome-wide association studies may contribute to medulloblastoma predisposition. METHODS: To test this hypothesis, we genotyped these genetic variants among 160 medulloblastoma patients and 443 health controls in a Chinese population...
January 4, 2018: Journal of Gene Medicine
HariOm Singh, Dharmesh Samani, Manisha V Ghate, R R Gangakhedkar
BACKGROUND: TRIM5α and BST-2 are cellular restriction factors, affecting the HIV-1 infection and its progression. Genetic variability in these genes alters the expression pattern. Hence, we aimed to examine the impact of TRIM5α (rs10838525, rs7127617, and rs904375) and BST2 (rs3217318 and rs71694748) polymorphisms on the acquisition of HIV-1 and its progression. METHOD: Genotyping of TRIM5α and BST-2 polymorphisms performed in a total of 153 HIV-infected patients and 158 unrelated healthy individuals by PCR-RFLP method...
December 28, 2017: Journal of Gene Medicine
Saman Ghalamkari, Heidar Sharafi, Seyed Moayed Alavian
BACKGROUND: Hepatitis B virus (HBV) infection is a worldwide health issue and is well known for being the main cause of developing secondary liver complications such as cirrhosis and hepatocellular carcinoma (HCC). The PNPLA3 rs738409 polymorphism has been investigated conclusively with occurrence risk of steatosis and cirrhosis. Therefore, performing a meta-analysis of the available studies with the aim of clarifying the association between rs738409 and occurrence risk of steatosis and cirrhosis among HBV-infected patients would be helpful...
January 2018: Journal of Gene Medicine
Duško Spasovski, Vesna Spasovski, Zoran Baščarević, Maja Stojiljković, Miša Vreća, Marina Anđelković, Sonja Pavlović
BACKGROUND: Osteoarthritis (OA) is a chronic degenerative joint disease and is considered to be the fourth leading cause of disability and the second cause of inability to work in men. Recently, adipose-derived mesenchymal stem cells (AD-MSCs) came into focus for regenerative medicine as a promising tool for the treatment of OA. The administration of stem cells into impaired joints results in pain relief and improves quality of life, accompanied by restoration of hyaline articular cartilage...
December 15, 2017: Journal of Gene Medicine
Yunna Chen, Li Sun, Dongdong Guo, Ziteng Wu, Weidong Chen
BACKGROUND: Drug resistance cancer cells have become a major problem in chemotherapy. To solve this problem, the co-delivery of small interefering RNA (siRNA) and 5-fluorouracil chitosan nanoparticles was employed, aiming to reverse the multidrug resistance of gastric cancer SGC-7901 cells in vitro. METHODS: Chitosan nanoparticles were prepared using an ionic gel method. siRNA nanoparticles were characterized by gel retardation assays. Particle size and zeta potential were measured to confirm nanoparticle formation...
December 2017: Journal of Gene Medicine
Lei Ye, Chao Yang, Jin-Fa Dou, Lei-Lei Wen, Wen-Jun Wang, Xiao-Dong Zheng, Xian-Bo Zuo, Fu-Sheng Zhou, Xing Fan, Xue-Jun Zhang
BACKGROUND: Large cohort-based genetic association studies have been established over a decade. However, for certain diseases, different results with respect to the genome-wide association study level have been obtained among studies, even for those conducted within the same ethnic groups. We hypothesized that onset age-based sample variables might have a great impact on the results. METHODS: In the present study, we divided psoriasis patients into several subgroups according to the onset age bracket...
December 2017: Journal of Gene Medicine
Ayman El-Sayed Shafei, Mahmoud Ahmed Ali, Hazem G Ghanem, Ahmed I Shehata, Ahmed A Abdelgawad, Hossam R Handal, Kareem A Talaat, Ahmed E Ashaal, Amal S El-Shal
For decades, mesenchymal stem (MSCs) cells have been used for cardiovascular diseases as regenerative therapy. This review is an attempt to summarize the types of MSCs involved in myocardial infarction (MI) therapy, as well as its possible mechanisms effects, especially the paracrine one in MI focusing on the studies (human and animal) conducted within the last 10 years. Recently, reports showed that MSC therapy could have infarct-limiting effects after MI in both experimental and clinical trials. In this context, various types of MSCs can help cardiac regeneration by either revitalizing the cardiac stem cells or revascularizing the arteries and veins of the heart...
December 2017: Journal of Gene Medicine
Sarra Bchir, Hela Ben Nasr, Abdelhamid Garrouch, Amel Ben Anes, Ammar Abbassi, Zouhair Tabka, Karim Chahed
OBJECTIVE: The goal of this study was to examine the role of MMP-3 (-1171 5A/6A; Lys45Glu (A/G)), MMP-7 (-181) A/G and MMP-12 (-82 A/G; Asn357Ser (A/G)) variants in the development and severity of chronic obstructive pulmonary disease (COPD) in Tunisians. METHODS: Plethysmography was performed in all participants to measure FEV1, FVC and FEV1/FVC parameters. Genotyping of MMP-3, MMP-7 and MMP-12 polymorphisms was carried out in 138 patients with COPD and 216 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)...
November 22, 2017: Journal of Gene Medicine
Maria Ventosa, Zetang Wu, Filip Lim
BACKGROUND: Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disease caused by mutations in the frataxin gene (FXN), which lead to reduced levels of the essential mitochondrial protein frataxin. Currently, there is no effective cure. METHODS: With the aim of developing a gene therapy for FA neuropathology, we describe the construction and preliminary characterization of a high-capacity nonreplicative genomic herpes simplex virus type 1 vector (H24B-FXNlac vector) carrying a reduced version of the human FXN genomic locus, comprising the 5-kb promoter and the FXN cDNA with the inclusion of intron 1...
November 2017: Journal of Gene Medicine
Yunlan Fang, Benjamin Wolfson, W T Godbey
BACKGROUND: Because of the time and expense associated with the procedures and possible distress to the patient, cystoscopy or other imaging techniques are typically not used for bladder cancer detection before symptoms become present. Alternatively, commercial assays for urinary tumor markers exist but are marred by low sensitivity and high cost. There is a need for a simple and sensitive means of tumor detection, such as via the analysis of urine. METHODS: Plasmids encoding the secretable reporter Gaussia Luciferase (G...
November 2017: Journal of Gene Medicine
Xiang Chen, Yousheng Xiao, Lei Wei, Yijuan Wu, Jianjun Lu, Wenyuan Guo, Shuxuan Huang, Miaomiao Zhou, Mingshu Mo, Zhe Li, Luan Cen, Shaomin Li, Chaohao Yang, Zhuohua Wu, Sophie Hu, Zhong Pei, XinLing Yang, Shaogang Qu, Pingyi Xu
BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disorder worldwide. Epigenetic modifications, specifically DNA methylation, have been implicated in the development of this disease. Genetic variants of DNA methyltransferase 3b (DNMT3b), one of the most important DNA methyltransferases, were shown to be associated with PD in a Brazilian population. However, it is unclear whether genetic variants of DNMT3b increase the risk of PD in the Chinese Han people...
November 2017: Journal of Gene Medicine
Shu-Mei Wang, Wei-Xin Zeng, Wan-Shui Wu, Lu-Lu Sun, Dan Yan
BACKGROUND: The pharmacokinetics and therapeutic response to methotrexate (MTX) display large variability in the treatment of acute lymphoblastic leukemia (ALL). The aim of the present study was to investigate the association of two microRNA (miRNA) binding site polymorphisms (rs3737966 G > A and rs35134728 DEL/TTC) in the 3'-untranslated region of MTHFR with serum MTX concentrations, in a Chinese pediatric population with ALL. METHODS: Genotyping for MTHFR rs3737966 and rs35134728 in 144 children with ALL was performed using the Sequenom MassArray system (Sequenom, San Diego, CA, USA)...
November 2017: Journal of Gene Medicine
Ying Cui, Guolin Li, Mengdan Yan, Jing Li, Tianbo Jin, Shanqu Li, Shijie Mu
BACKGROUND: Malignant gliomas are the most common primary brain tumors. Various genetic factors play important roles in the development and prognosis of glioma. The present study focuses on the impact of MPHOSPH6, TNIP1 and several other genes (ACYP2, NAF1, TERC, TERT, OBFC1, ZNF208 and RTEL1) on telomere length and how this affects the prognosis of glioma. METHODS: Forty-three polymorphisms in nine genes from 605 glioma patients were selected. The association between genotype and survival outcome was analyzed using the Kaplan-Meier method, Cox regression analysis and the log-rank test...
November 2017: Journal of Gene Medicine
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