• The Korean Journal of Physiology and Pharmacology
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• 제21권1호
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• pp.11-17
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• 2017

Crohn's disease (CD) is a chronic inflammatory bowel disease with multifactorial causes including environmental and genetic factors. Several studies have demonstrated that the organic cation/carnitine transporter 1 (OCTN1) non-synonymous variant L503F is associated with susceptibility to CD. However, it was reported that L503F is absent in Asian populations. Previously, we identified and functionally characterized genetic variants of the OCTN1 promoter region in Koreans. In that study, four variants demonstrated significant changes in promoter activity. In the present study, we determined whether four functional variants of the OCTN1 promoter play a role in the susceptibility to or clinical course of CD in Koreans. To examine it, the frequencies of the four variants of the OCTN1 promoter were determined by genotyping using DNA samples from 194 patients with CD and 287 healthy controls. Then, associations between genetic variants and the susceptibility to CD or clinical course of CD were evaluated. We found that susceptibility to CD was not associated with OCTN1 functional promoter variants or haplotypes showing altered promoter activities in in vitro assays. However, OCTN1 functional promoter haplotypes showing decreased promoter activities were significantly associated with a penetrating behavior in CD patients (HR=2.428, p=0.009). Our results suggest that the OCTN1 functional promoter haplotypes can influence the CD phenotype, although these might not be associated with susceptibility to this disease.

• The Plant Pathology Journal
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• 제26권3호
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• pp.216-222
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• 2010

Fusarium proliferatum is the causal agent of stalk and root rot disease of maize, foot rot disease of rice, basal and root rot disease of onion and knife cut disease of sugarcane in Iran. In recent years, incidence and severity of these diseases have been increased in Iran. Fifty seven F. proliferatum single-spore isolates collected from diseased maize, rice, onion and sugarcane plants at different areas were used to study genetic diversity by determination of vegetative compatibility groups (VCGs). Chlorate-resistant nitrate non-utilizing (nit) mutants were recovered from selected isolates of F. proliferatum and used in complementation tests. All isolates in which both nit1 and NitM (or nit3) mutants were recovered, demonstrated self-compatibility. Vegetative compatibility tests by pairing nit mutants identified 30 VCGs among 57 isolates. Twenty-three isolates belonged to singlemember VCGs and the remaining 34 isolates, belonged to other seven multimember VCGs. Segregation of F. proliferatum isolates obtained from various area and host plants into different VCGs in Iran is reported for the first time. In this study, none of isolates obtained from rice complemented with any other isolates from onion and sugarcane and, non complementation occurred between onion and sugarcane isolates. Also, only one complementation occurred between one isolate of maize and one isolate of sugarcane and rice. Thus, a correlation between VCGs grouping and host preferences was founded. It is concluded that natural populations of F. proliferatum in Iran are probably genetically divergent and include isolates representing a potential risk for disease development.

• Parasites, Hosts and Diseases
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• 제53권1호
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• pp.129-134
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• 2015

Schistosoma haematobium is one of the most prevalent parasitic flatworms, infecting over 112 million people in Africa. However, little is known about the genetic diversity of natural S. haematobium populations from the human host because of the inaccessible location of adult worms in the host. We used 4 microsatellite loci to genotype individually pooled S. haematobium eggs directly from each patient sampled at 4 endemic locations in Africa. We found that the average allele number of individuals from Mali was significantly higher than that from Nigeria. In addition, no significant difference in allelic composition was detected among the populations within Nigeria; however, the allelic composition was significantly different between Mali and Nigeria populations. This study demonstrated a high level of genetic variability of S. haematobium in the populations from Mali and Nigeria, the 2 major African endemic countries, suggesting that geographical population differentiation may occur in the regions.

• IMMUNE NETWORK
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• 제3권4호
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• pp.261-267
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• 2003

The periodontal diseases are infections caused by bacteria in oral biofilm, a gelatinous mat commonly called dental plaque, which is a complex microbial community that forms and adhere to tooth surfaces. Host immune-pathogen interaction in periodontal disease appears to be a complex process, which is regulated not only by the acquired immunity to deal with ever-growing and -invading microorganisms in periodontal pockets, but also by genetic and/or environmental factors. However, our understanding of the pathogenesis in human periodontal diseases is limited by the lack of specific and sensitive tools or models to study the complex microbial challenges and their interactions with the host's immune system. Recent advances in cellular and molecular biology research have demonstrated the importance of the acquired immune system in fighting the virulent periodontal pathogens and in protecting the host from developing further devastating conditions in periodontal infections. The use of genetic knockout and immunodeficient mouse strains has shown that the acquired immune response, in particular, $CD4^+$ T-cells plays a pivotal role in controlling the ongoing infection, the immune/inflammatory responses, and the subsequent host's tissue destruction.

• Journal of Interdisciplinary Genomics
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• 제2권1호
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• pp.5-9
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• 2020

von Willebrand disease (VWD) is a genetic bleeding disorders caused by a deficiency of von Willebrand factor (VWF). Diagnosis or exclusion of VWD is not an easy task for most clinicians. These difficulties in diagnosis or exclusion of VWD may be due to preanalytic, analytical and postanalytic laboratory issues. Analytical systems to diagnose VWD may produce misleading results because of limitations in their dynamic range of measurement and low sensitivity. However, preanalytical issues such as sample collection, processing, and transportation affect the diagnosis of VWD profoundly. We will review here the common preanlytical issues that may impact the laboratory diagnosis of VWD.

• Bioinformatics and Biosystems
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• 제2권2호
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• pp.71-74
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• 2007

Cell phenotypes are determined by groups of functionally related genes. Microarray profiling of gene expression provides us response of cellular state to its perturbation. Several methods for uncovering a cellular network show reliable network reconstruction. In this study, we present reconstruction of genetic regulatory network of inflammation bowel disease in human peripheral blood mononuclear cell. The microarray based on Affymetrix Gene Chip Human Genome U133 Array Set HG-U133A is processed and applied network reconstruction algorithm, ARACNe. As a result, we will show that inferred network composed of 450 nodes and 2017 edges is roughly scale-free network and hierarchical organization. The major hub, CCNL2 (cyclin A2), in inferred network is shown to be associated with inflammatory function as well as apoptotic function.

• Archives of Plastic Surgery
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• 제39권3호
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• pp.184-189
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• 2012

Keloid disease is a fibroproliferative dermal tumor with an unknown etiology that occurs after a skin injury in genetically susceptible individuals. Increased familial aggregation, a higher prevalence in certain races, parallelism in identical twins, and alteration in gene expression all favor a remarkable genetic contribution to keloid pathology. It seems that the environment triggers the disease in genetically susceptible individuals. Several genes have been implicated in the etiology of keloid disease, but no single gene mutation has thus far been found to be responsible. Therefore, a combination of methods such as association, gene-gene interaction, epigenetics, linkage, gene expression, and protein analysis should be applied to determine keloid etiology.

• 한국수정란이식학회지
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• 제31권1호
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• pp.97-107
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• 2016

Although many diseases could be treated by the development of modern medicine, there are some incurable diseases including brain cancer, Alzheimer disease, etc. To study human brain cancer, various animal models were reported. Among these animal models, mouse models are valuable tools for understanding brain cancer characteristics. In spite of many mouse brain cancer models, it has been difficult to find a new target molecule for the treatment of brain cancer. One of the reasons is absence of large animal model which makes conducting preclinical trials. In this article, we review a recent study of molecular characteristics of human brain cancer, their genetic mutation and comparative analysis of the mouse brain cancer model. Finally, we suggest the need for development of large animal models using somatic cell nuclear transfer in translational research.

• Clinical and Experimental Pediatrics
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• 제64권6호
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• pp.269-279
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• 2021

Clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9 (CRISPR-Cas9) is an ancient prokaryotic defense system that precisely cuts foreign genomic DNA under the control of a small number of guide RNAs. The CRISPR-Cas9 system facilitates efficient double-stranded DNA cleavage that has been recently adopted for genome editing to create or correct inherited genetic mutations causing disease. Congenital heart disease (CHD) is generally caused by genetic mutations such as base substitutions, deletions, and insertions, which result in diverse developmental defects and remains a leading cause of birth defects. Pediatric CHD patients exhibit a spectrum of cardiac abnormalities such as septal defects, valvular defects, and abnormal chamber development. CHD onset occurs during the prenatal period and often results in early lethality during childhood. Because CRISPR-Cas9-based genome editing technology has gained considerable attention for its potential to prevent and treat diseases, we will review the CRISPR-Cas9 system as a genome editing tool and focus on its therapeutic application for CHD.

• 수면정신생리
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• 제28권2호
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• pp.43-52
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• 2021

Restless Legs Syndrome/Willis-Ekbom Disease (RLS/WED) is a sleep disorder characterized by sensorimotor symptoms such as unpleasant sensations before sleep, akathisia, and periodic limb movements during sleep. It is also closely related to hyperarousal and is often accompanied by insomnia. Although the mechanism is not clear, the understanding of etiology and pathophysiology has greatly expanded through recent advances in genetic and neurobiological research. The most important pathophysiology of RLS/WED is brain iron deficiency. Such iron deficiency in the brain is caused by complex interactions between several genetic factors and various environmental factors, including comorbidities. Iron deficiency in the brain results in dysfunction of several neurotransmitters. A decrease in adenosine activity appears first, followed by an increase in the activity of glutamate and dopamine. A decrease in adenosine activity and an increase in glutamate activity stimulate the brain arousal system, resulting in hyperarousal. In addition, overproduction of dopamine and glutamate leads to dysfunction of the cortical-striatal-thalamic circuit, resulting in symptoms such as akathisia and periodic limb movements during sleep.