• Childhood Kidney Diseases
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• 제23권2호
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• pp.59-66
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• 2019

Background: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1-3 (PH1-PH3) caused by AGXT, GRHPR, and HOGA1 gene mutations, respectively. We performed a retrospective case series study of Korean pediatric patients with PH. Methods: In total, 11 unrelated pediatric patients were recruited and their phenotypes and genotypes were analyzed by a retrospective review of their medical records. Results: Mutational analyses revealed biallelic AGXT mutations (PH1) in nine patients and a single heterozygous GRHPR and HOGA1 mutation in one patient each. The c.33dupC was the most common AGXT mutation with an allelic frequency of 44%. The median age of onset was 3 months (range, 2 months-3 years), and eight patients with PH1 presented with end stage renal disease (ESRD). Patients with two truncating mutations showed an earlier age of onset and more frequent retinal involvement than patients with one truncating mutation. Among eight PH1 patients presenting with ESRD, five patients were treated with intensive dialysis followed by liver transplantation (n=5) with/without subsequent kidney transplantation (n=3). Conclusion: Most patients presented with severe infantile forms of PH. Patients with two truncating mutations displayed more severe phenotypes than those of patients with one truncating mutation. Sequential liver and kidney transplantation was adopted for PH1 patients presenting with ESRD. A larger nation-wide multicenter study is needed to confirm the genotype-phenotype correlations and outcomes of organ transplantation.

• 한방비만학회지
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• 제3권1호
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• pp.75-84
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• 2003

Objective : In Western medicine, the cause of obesity include overeating, lack of exercise, genetic factor, endocrinal impediment and psychological factor. Since the society becomes more complexed and the tensions among social members gets intensified, psychological factor getting more important. In Oriental medicine, Seven Emotion(七情, in oriental medical term) as an emotional stressor was thought to be a factor of obesity. Therefore the purpose of this study is to examine the relationship between Seven Emotion and obesity in detail. Methods : overview the stress with the view of Oriental medicine and research the relationship between Seven Emotion as an emotional stressor and obesity. Results : 1. Seven Emotion can be understood as an emotional stress in Western medicine. If Seven Emotion is excessive, its extreme mental stimulation causes physical illness. 2. Having influence upon the function of internal organs, excessive Seven Emotion causes obesity. Since it hinders normal flow of Gangi(肝氣), Seven Emotion disturbs healthy function of Bi-Wi(脾胃) and normal fluctuation of Qi. Consequently, obesity is resulted from the accumulation of fat since normal metabolism of body is disrupted. 3. In Seven Emotion-Anger(怒), Joy(喜), Anxiety(憂), Thought(思), Sorrow(悲), Fear(恐), Surprise(驚)-give rise to Gan-bi-bul-wha(肝脾不和), Sim-hi-yang-huh(心脾兩虛), Bi-qi-huh(碑氣虛), Dam-sup-jeo-po(痰濕沮胞) and Wi-wha-sang-youm(胃火上炎) in type of symptom in obesity and therefore, cause obesity.

• Journal of Veterinary Science
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• 제22권1호
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• pp.5.1-5.16
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• 2021

Background: Arctic-like (AL) lineages of rabies viruses (RABVs) remains endemic in some Arctic and Asia countries. However, their evolutionary dynamics are largely unappreciated. Objectives: We attempted to estimate the evolutionary history, geographic origin and spread of the Arctic-related RABVs. Methods: Full length or partial sequences of the N and G genes were used to infer the evolutionary aspects of AL RABVs by Bayesian evolutionary analysis. Results: The most recent common ancestor (tMRCA) of the current Arctic and AL RABVs emerged in the 1830s and evolved independently after diversification. Population demographic analysis indicated that the viruses experienced gradual growth followed by a sudden decrease in its population size from the mid-1980s to approximately 2000. Genetic flow patterns among the regions reveal a high geographic correlation in AL RABVs transmission. Discrete phylogeography suggests that the geographic origin of the AL RABVs was in east Russia in approximately the 1830s. The ancestral AL RABV then diversified and immigrated to the countries in Northeast Asia, while the viruses in South Asia were dispersed to the neighboring regions from India. The N and G genes of RABVs in both clades sustained high levels of purifying selection, and the positive selection sites were mainly found on the C-terminus of the G gene. Conclusions: The current AL RABVs circulating in South and North Asia evolved and dispersed independently.

• Animal Bioscience
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• 제34권10호
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• pp.1684-1694
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• 2021

Objective: This study investigated the association between feed efficiency, physicochemical properties, flavor precursors and biomolecules in the thigh meat of Korat (KR) chickens. Methods: The feed intake and body weight of individual male KR chickens were recorded from 1 to 10 weeks old to calculate the individual residual feed intake (RFI) of 75 birds. At 10 weeks of age, chickens with the 10 highest (HRFI) and lowest RFI (LRFI) were slaughtered to provide thigh meat samples. The physicochemical properties (ultimate pH, water holding capacity [WHC], drip loss) and flavor precursors (guanosine monophosphate, inosine monophosphate (IMP), adenosine monophosphate and inosine) were analyzed conventionally, and Fourier transform infrared spectroscopy was used to identify the composition of biomolecules (lipids, ester lipids, amide I, amide II, amide III, and carbohydrates) and the secondary structure of the proteins. A group t-test was used to determine significant differences between mean values and principal component analysis to classify thigh meat samples into LRFI and HRFI KR chickens. Results: The physicochemical properties of thigh meat samples from LRFI and HRFI KR chickens were not significantly different but the IMP content, ratios of lipid, lipid ester, protein (amide I, amide II) were significantly different (p<0.05). The correlation loading results showed that the LRFI group was correlated with high ratios of lipids, lipid esters, collagen content (amide III) and beta sheet protein (rg loading >0.5) while the HRFI group was positively correlated with protein (amide I, amide II), alpha helix protein, IMP content, carbohydrate, ultimate pH and WHC (rg loading >0.5). Conclusion: The thigh meat from chickens with different RFI differed in physiochemical properties affecting meat texture, and in the contents of flavor precursors and biomolecules affecting the nutritional value of meat. This information can help animal breeders to make genetic improvements by taking more account of traits related to RFI.

• Journal of Plant Biotechnology
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• 제48권1호
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• pp.12-17
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• 2021

Saponarin found in young barley sprouts has a variety of beneficial biological and pharmacological properties, including antioxidant, hypoglycemic, antimicrobial, and hepatoprotective activities. Our previous work demonstrated that saponarin content was correlated with the expression levels of three biosynthetic pathway genes [chalcone synthase (HvCHS1), chalcone isomerase (HvCHI), and UDP-Glc:isovitexin 7-O-glucosyltransferase (HvOGT1)] in young barley seedlings under various abiotic stress conditions. In this study, we investigated the saponarin content and expression levels of three saponarin biosynthetic pathway genes in hulled and hulless domestic barley cultivars. In the early developmental stages, some hulled barley cultivars (Kunalbori1 and Heukdahyang) had much higher saponarin contents than did the hulless barley cultivars. An RNA expression analysis showed that in most barley cultivars, decreased saponarin content correlated with reduced expression of HvCHS1 and HvCHI, but not HvOGT1. Heat map analysis revealed both specific increases in HvCHS1 expression in certain hulled and hulless barley cultivars, as well as general changes that occurred during the different developmental stages of each barley cultivar. In summary, our results provide a molecular genetic basis for the metabolic engineering of barley plants to enhance their saponarin content.

• Animal Bioscience
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• 제34권4호
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• pp.751-758
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• 2021

Objective: The objectives of this study were to investigate the relationship between the mRNA expression of adipocyte type fatty acid binding protein (A-FABP) and heart type FABP (H-FABP) in Thai native chicken crossbreeds and evaluate the level of exotic inclusion in native chicken that will improve growth while maintaining its relatively low carcass fat. Methods: The fat deposition traits and mRNA expression of A-FABP and H-FABP were evaluated at 6, 8, 10, and 12 weeks of age in 4 chicken breeds (n = 8/breed/wk) (100% Chee breed [CH] [100% Thai native chicken background], CH male and broiler female [Kaimook e-san1; KM1] [50% CH background], broiler male and KM1 female [Kaimook e-san2; KM2] [25% CH background], and broiler [BR]) using abdominal fat (ABF) and muscular tissues. Results: The BR breed was only evaluated at 6 weeks of age. At week 6, the CH breed had a significantly lower A-FABP expression in ABF and intramuscular fat (IF) compared with the other breeds. At 8 to 12 weeks, the KM2 groups showed significant upregulation (p<0.05) of A-FABP in both ABF and IF compared to the CH and KM1 groups. The expression of H-FABP did not follow any consistent pattern in both ABF and IF across the different ages. Conclusion: Some level of crossbreeding CH chickens can be done to improve growth rate while maintaining their low ABF and IF. The expression level of A-FABP correlate with most fat traits. There was no consistency of H-FABP expression across breed. A-FABPs is involved in fat deposition, genetic markers in these genes could be used in marker assisted studies to select against excessive fat accumulation.

• Journal of Forest and Environmental Science
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• 제37권4호
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• pp.309-314
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• 2021

This study aimed to enhance seed productivity and secure genetic resources for Pinus densiflora for. multicaulis. We analyzed the characteristics of cone and seed generated by control pollination between Pinus densiflora (PD) and Pinus densiflora for. multicaulis (PDM). The highest number of cone scales (63.0) was obtained from the self-pollinated (sp) PDM clone B (PDM-sp-B), whereas the lowest number of cone scales (44.7) was obtained from two combinations designated as PDM-A×PD-075 and PDM-A×PD-0111. Both female parents of the hybrids were PDM-A. The highest seed production capacity (80.8) was obtained from the open-pollinated (op) PDM clone B (PDM-op-B). The seed potentials of PDM-B×PD-0111, PDM-op-A, and PDM-sp-B were 67.4, 66.5, and 63.1, respectively. The highest number of fertile scales (41.5) was obtained from PDM-op-B, and the lowest number of fertile scales (28.8) was obtained from PDM-A×PD-075. The total number of aborted ovules and 1st aborted ovules was not statistically significant in the mating design. The cross combination of PDM-B×PD-0111 had the highest number (34.8) of filled seeds and the lowest number of 2nd aborted ovules (5.2) and empty seeds (9). PDM-op-B had the highest number of developed seeds (47.6), although the number of empty seeds was the highest (41.2). Therefore, we conclude that the mating design of PDM-B×PD-0111 is useful for future breeding programs to improve seed yield of PDM. Our results showed that there was a strong correlation between the following two parameter pairs: number of scales and number of fertile scales, and the number of fertility scales and seeds potential (r=0.89 and r=0.84, respectively; both p<0.01).

• Genomics & Informatics
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• 제19권4호
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• pp.40.1-40.11
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• 2021

Mutation signatures represent unique sequence footprints of somatic mutations resulting from specific DNA mutagenic and repair processes. However, their causal associations and the potential utility for genome research remain largely unknown. In this study, we performed PanCancer-scale correlative analyses to identify the genomic features associated with tumor mutation burdens (TMB) and individual mutation signatures. We observed that TMB was correlated with tumor purity, ploidy, and the level of aneuploidy, as well as with the expression of cell proliferation-related genes representing genomic covariates in evaluating TMB. Correlative analyses of mutation signature levels with genes belonging to specific DNA damage-repair processes revealed that deficiencies of NHEJ1 and ALKBH3 may contribute to mutations in the settings of APOBEC cytidine deaminase activation and DNA mismatch repair deficiency, respectively. We further employed a strategy to identify feature-driven, de novo mutation signatures and demonstrated that mutation signatures can be reconstructed using known causal features. Using the strategy, we further identified tumor hypoxia-related mutation signatures similar to the APOBEC-related mutation signatures, suggesting that APOBEC activity mediates hypoxia-related mutational consequences in cancer genomes. Our study advances the mechanistic insights into the TMB and signature-based DNA mutagenic and repair processes in cancer genomes. We also propose that feature-driven mutation signature analysis can further extend the categories of cancer-relevant mutation signatures and their causal relationships.

• Journal of Medicine and Life Science
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• 제18권3호
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• pp.41-48
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• 2021

The prevalence of attention deficit hyperactivity disorder (ADHD), a developmental neuropsychiatric disorder, is high among children and adolescents. The pathogenesis of ADHD is mediated with genetic, biological, and environmental factors. Most therapeutic drugs for ADHD have so far targeted biological causes, primarily by regulating catecholaminergic neurotransmitters. However, ADHD drugs that are clinically treated have various problems in their addictiveness and drug stability; thus, it is recommended that efficacy and safety should be secured through simultaneous prescription of multiple drugs rather than a single drug treatment. Accordingly, it is necessary to develop drugs that newly target pathogenic mechanisms of ADHD. In this study, we attempt to confirm the possibility of developing new drugs by reviewing dopamine-related developmental mechanisms of neurons and their correlation with ADHD. Histone deacetylase inhibitors (HDACi) can regulate the concentration of intracellular dopamine in neurons by expressing vesicular monoamine transporter 2 and inducing the exocytosis of neurotransmitters to the synaptic cleft, thereby promoting the development of neurons and signal transmission. This cellular modulation of HDACi is expected to treat ADHD by regulating endogenous catecholamines such as dopamine. Although studies are still in the preclinical stage, HDAC inhibitors clearly have potential as a therapeutic agent with low addictiveness and high efficacy for ADHD treatment.

• Clinical and Experimental Reproductive Medicine
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• 제50권3호
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• pp.192-199
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• 2023

Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. Results: An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. Conclusion: This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.