• Clinical and Experimental Pediatrics
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• v.53 no.8
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• pp.809-813
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• 2010

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset age. BS type I is caused by loss-of-function mutations in the $SLC12A1$ gene and usually manifests as antenatal BS. This report concerns a male patient with compound heterozygous missense mutations on $SLC12A1$ (p.C436Y and p.L560P) and atypical clinical and laboratory features. The patient had low urinary sodium and chloride levels without definite metabolic alkalosis until the age of 32 months, which led to confusion between BS and nephrogenic diabetes insipidus (NDI). In addition, the clinical onset of the patient was far beyond the neonatal period. Genetic study eventually led to the diagnosis of BS type I. The low urinary sodium and chloride concentrations may be caused by secondary NDI, and the later onset may suggest the existence of a genotype-phenotype correlation. In summary, BS type I may have phenotype variability including low urine sodium and chloride levels and later onset. A definitive diagnosis can be confirmed by genetic testing.

• The Journal of Korean Medicine
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• v.35 no.4
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• pp.36-51
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• 2014

Objectives: cDNA microarray is an effective method to snapshot gene expression. Functional clustering of gene expressions can identify herbal medicine mechanisms. Much microarray data is available for various herbal medicines. This study compares regulated genes with herbal medicines to evaluate the nature of the drugs. Methods: Published microarray data were collected. Total RNAs were prepared from dissociated hippocampal dissociate cultures which were given hypoxic shock in the presence of each herbal medicine. Up- or downregulated genes higher than Global M value 0.5 were selected, clustered in functional groups, and compared with various herbal treatments. Results: 1. Akt2 was upregulated by Acorus gramineus SOLAND, Arisaema amurense var. serratum $N_{AKAI}$ and Coptis chinensis $F_{RANCH}$, and they belong to Araceae herb. 2. Nf-${\kappa}b1$, Cd5, $Gn{\gamma}7$ and Sgne1 were upregulated by Arisaema amurense var. serratum $N_{AKAI}$, Coptis chinensis $F_{RANCH}$ and Rheum coreanum $N_{AKAI}$. 3. Woohwangcheongsim-won, Sohaphyang-won and Scutellaria baicalensis $G_{EORGI}$ downregulated Scp2 and upregulated Tsc2. Woohwangcheongsim-won and Sohaphyang-won upregulated Hba1 and downregulated Myf6. 4. Sohaphyang-won and Scutellaria baicalensis $G_{EORGI}$ downregulated Slc12a1. 5. Woohwangcheongsim-won and Arisaema amurense var. serratum $N_{AKAI}$ upregulated $Rar{\alpha}$, Woohwangcheongsim-won and Coptis chinensis $F_{RANCH}$ downregulated Rab5a and $Pdgfr{\alpha}$, and Woohwangcheongsim-won and Rheum coreanum $N_{AKAI}$ upregulated $Plc{\gamma}1$ and downregulated Pla2g1b and Slc10a1. Conclusions: By clustering microarray, genes are commonly identified to be either up- or downregulated. These results will provide new information to understand the efficacy of herbal medicines and to classify them at the molecular level.

• Journal of the Korean Chemical Society
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• v.51 no.6
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• pp.536-542
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• 2007

Behcet's disease (BD) is a chronic inflammatory disorder, involving several organs. Inflammation in the disease is thought to be mediated by cytokines derived from T-helper type 1 (Th1) lymphocytes. Although the exact pathogenesis for BD is not completely understood, it has been suggested that the disease is triggered in genetically susceptible individuals by environmental factors, such as microbial agents. It is noted that multiple genes, including MHC (major histocompatibility complex) and non-MHC genes, are implicated in the pathogenesis of BD. This study tries to determine whether HLA-B51, IL-18, SLC11A1 and TNF-α polymorphisms are associated with susceptibility to Behcet's disease in Koreans. As a results, HLA-B51 was a genetic factor with the strongest association with BD. But it is still uncertain whether this HLA molecule is directly involved in the pathogenesis of BD. Although the IL-18 gene polymorphisms were not associated with a susceptibility to BD in the Korean population, the patients carrying the GG genotype at position 137 had a higher risk of developing the ocular lesions. This study suggests that the allele 3 and the genotype allele 3 / allele 3 of 5'-promoter (GT)n polymorphism in the SLC11A1 gene may have a protective effect for the development of BD in the Korean population. There were no evidences for genetic association conferred by the TNF-α gene with respect to susceptibility to BD.

• Dementia and Neurocognitive Disorders
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• v.17 no.4
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• pp.131-136
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• 2018

Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are APP, PSEN1, PSEN2, ABCA7, and SORL1. Genome-wide association studies have found risk genes such as ABCA7, BIN1, CASS4, CD33, CD2AP, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB5-HLA-DRB1, INPP5D, MEF2C, MS4A6A/MS4A4E, NME8, PICALM, PTK2B, SLC24A4, SORL1, and ZCWPW1. ABCA7, SORL1, TREM2, and APOE are proved to have high odds ratio (>2) in risk of AD using next generation sequencing studies. Thanks to the promising genetic techniques such as CRISPR-CAS9 and single-cell RNA sequencing opened a new era in genetics. CRISPR-CAS9 can directly link genetic knowledge to future treatment. Single-cell RNA sequencing are providing useful information on cell biology and pathogenesis of diverse diseases.

• Clinical and Experimental Pediatrics
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• v.50 no.5
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• pp.489-492
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• 2007

Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. This disease usually produces no symptoms, but hematuria, uric acid nephrolithiasis or acute renal failure may develop. A defect in the SLC22A12 gene, which encodes the human urate transporter, is the known major cause of this disorder. We describe a 10-month-old boy with idiopathic renal hypouricemia. He was diagnosed with transient pseudohypoaldosteronism at admission, but hypouricemia was accidentally found through follow-up study. By gene analysis, his diagnosis was confirmed to idiopathic renal hypouricemia. In addition, we report a mutation in the human urate transporter 1 (hURAT1) gene identified in his family.

• Journal of Animal Science and Technology
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• v.63 no.5
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• pp.1126-1141
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• 2021

Recent evidence has shown that methionine (Met) supplementation can improve milk protein synthesis under hyperthermia (which reduces milk production). To explore the mechanism by which milk protein synthesis is affected by Met supplementation under hyperthermia, mammary alveolar (MAC-T) cells were incubated at a hyperthermic temperature of 42℃ for 6 h in media with different concentrations of Met. While the control group (CON) contained a normal amino acid concentration profile (60 ㎍/mL of Met), the three treatment groups were supplemented with Met at concentrations of 10 ㎍/mL (MET70, 70 ㎍/mL of Met), 20 ㎍/mL (MET80, 80 ㎍/mL of Met), and 30 ㎍/mL (MET90,90 ㎍/mL of Met). Our results show that additional Met supplementation increases the mRNA and protein levels of BCL2 (B-cell lymphoma-2, an anti-apoptosis agent), and decreases the mRNA and protein levels of BAX (Bcl-2-associated X protein, a pro-apoptosis agent), especially at an additional supplementary concentration of 20 ㎍/mL (group Met80). Supplementation with higher concentrations of Met decreased the mRNA levels of Caspase-3 and Caspase-9, and increased protein levels of heat shock protein (HSP70). The total protein levels of the mechanistic target of rapamycin (mTOR) and the mTOR signalling pathway-related proteins, AKT, ribosomal protein S6 kinase B1 (RPS6KB1), and ribosomal protein S6 (RPS6), increased with increasing Met supplementation, and peaked at 80 ㎍/mL Met (group Met80). In addition, we also found that additional Met supplementation upregulated the gene expression of αS1-casein (CSN1S1), β-casein (CSN2), and the amino acid transporter genes SLC38A2, SLC38A3 which are known to be mTOR targets. Additional Met supplementation, however, had no effect on the gene expression of κ-casein (CSN3) and solute carrier family 34 member 2 (SLC34A2). Our results suggest that additional Met supplementation with 20 ㎍/mL may promote the synthesis of milk proteins in bovine mammary epithelial cells under hyperthermia by inhibiting apoptosis, activating the AKT-mTOR-RPS6KB1 signalling pathway, and regulating the entry of amino acids into these cells.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

• Proceedings of the Korean Society of Precision Engineering Conference
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• 1995.04b
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• pp.445-450
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• 1995

This paper deals with conversion from STL file to Slice cross-sectional information for Stereolithography. The STL file consist of three vertices of triangle and normal vectors in order to represent three dimension shape, but It is very difficult to convert STL file intoSlice file directly, because of file size from one Mbyte to tens of Mbytes. So, The system is accomplished data flow such as neutral.dat, .SL1, .SL2, .SL3, and .SLC file. The data processing is as follows: 1. Create a neutral file including common information. 2. Modify STL file within effective scope of SLA. 3. Calculate a point of intersection between plane equation and line equation. 4. Sort z values by increasing order. 5. Search closed loop by method of singlylinked linear list. The system is developed by using Borland C++ 3.1 compiler in the environment of Pentium PC. We get a satisfactory prototype as a result of application about a lot of household electrical appliances.

• Annals of Pediatric Endocrinology and Metabolism
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• v.23 no.4
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• pp.169-175
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• 2018

Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%-15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach.

• Journal of fish pathology
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• v.23 no.3
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• pp.303-311
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• 2010

Our previous finding summarizing that larval sieving process is inevitable but triggers the outbreak of scutica-like ciliates (SLCs) in the seed production of Patinopecten yessoensis urged further study to determine best suggestable sieving interval in an agreeable range of water quality. In the mass seed production of the scallop, SLC outbreak was closely related to the larval sieving in which larvae were drained on the basis of every 3-day (5T), 5-day (3T), 7-day (2T), or 9-day (1T) from culture tanks onto a mesh screen and placed back into new water in cleaned tanks. The larval performance of growth and survival was clearly dependent on the sieving intervals. It was in order of 3T, 5T, 2T, and 1T for both of growth and survival and in reverse order for SLC infection frequency, confirming that larval sieving is necessary but damageable if it overwhelms the larval resistance. Interestingly, the larval damages by the sieving persisted to their ensuing spat life in terms of nursery growth, survival, and abnormality.