• Development and Reproduction
• /
• v.16 no.2
• /
• pp.129-135
• /
• 2012

Previously, we identified that the overexpression of IEX-1 induces apoptosis in ovarian cancer cells. Herein we report a new binding partner of IEX-1, CATHEPSIN B, as a lysosomal enzyme which contributes to the various apoptotic signaling in tumor cells. To investigate how IEX-1 regulates cellular survival and death event, we performed yeast two-hybrid screening of rat ovarian cDNA library using IEX-1 as the bait and found CATHEPSIN B. In the present study, CATHEPSIN B and IEX-1 proteins were overexpressed in 293T cells and their specific association was determined by immunoprecipitation and immunoblot analysis. In addition, the endogenous interaction between CATHEPSIN B and IEX-1 was confirmed in HeLa cells. The current finding of lysosomal CATHEPSIN B as the IEX-1-binding partner implies that IEX-1 may involve in lysosome-mediated apoptotic signaling pathways.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.15 no.2
• /
• pp.93-97
• /
• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. Mutations in the ACADS gene cause short-chain acyl-CoA dehydrogenase deficiency, which is characterized by developmental delay, hypotonia, seizure, and hypoglycemia. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of C4 was typically elevated 5.23 mg/dL (reference range <1.5 mg/dL). This patient had a homozygous mutation [c.1031A>G, p. E344G] in ACADS. Therefore, we present a case of SCAD deficiency in an otherwise healthy neonate and her subsequent development and growth over four years.

• The Journal of Pediatrics of Korean Medicine
• /
• v.30 no.2
• /
• pp.10-22
• /
• 2016

Objectives This study is to analyze current guidelines for health check-ups in infants and children, and to develop better guidelines based on oriental medicine. Methods We analyzed The Manual of 2015's Health Examination for Infants and Children which is a Korean Developmental Screening Test for Infants and Children (K-DST). The statistics from the test was collected from 2010 to 2014 to figure out the problems of Health Examinations for Infants and Children. 20 articles from 2000 to 2014 from RISS, NDSL were also analyzed. Results The current guidelines for health examinations in infants and children didn't include major pediatric diseases such as allergy and asthma. Also, the pediatrics health education materials were mainly focused on hypernutrition but not so much on nutrition deficiency. The number of the centers for Health Examinations for Infants and Children was 52.2% of the number of NIP-Participating medical institutions for infants and children. Conclusions Oriental medicine can be useful to prevent major pediatric diseases and to promote general health in pediatrics. By legislating 'Geon-a-beop', which is a law for infants and children, we can increase the number of medical centers for infants and children to get health check-ups. Currently, there are 9,769 Korean medical institutions, and the rate of traditional medical doctors of public health doctors was 25.5%. Weak Children Questionnaire is developed, considered to be more useful when it is developed with 5-point scale rather than 2.

• Molecules and Cells
• /
• v.28 no.1
• /
• pp.43-48
• /
• 2009

By screening C. elegans mutants for severe defects in germline proliferation, we isolated a new loss-of-function allele of cdc-25.1, bn115. bn115 and another previously identified loss-of-function allele nr2036 do not exhibit noticeable cell division defects in the somatic tissues but have reduced numbers of germ cells and are sterile, indicating that cdc-25.1 functions predominantly in the germ line during postembryonic development, and that cdc-25.1 activity is probably not required in somatic lineages during larval development. We analyzed cell division of germ cells and somatic tissues in bn115 homozygotes with germline-specific anti-PGL-1 immunofluorescence and GFP transgenes that express in intestinal cells, in distal tip cells, and in gonadal sheath cells, respectively. We also analyzed the expression pattern of cdc-25.1 with conventional and quantitative RT-PCR. In the presence of three other family members of cdc-25.1 in C. elegans, defects are observed only in the germ line but not in the somatic tissues in cdc-25.1 single mutants, and cdc-25.1 is expressed predominantly, if not exclusively, in the germ line during postembryonic stages. Our findings indicate that the function of cdc-25.1 is unique in the germ line but likely redundant with other members in the soma.

• Development and Reproduction
• /
• v.18 no.4
• /
• pp.275-286
• /
• 2014

To successful molecular breeding, identification and functional characterization of breeding related genes and development of molecular breeding techniques using DNA markers are essential. Although the development of a useful marker is difficult in the aspect of time, cost and effort, many markers are being developed to be used in molecular breeding and developed markers have been used in many fields. Single nucleotide polymorphisms (SNPs) markers were widely used for genomic research and breeding, but has hardly been validated for screening functional genes in olive flounder. We identified single nucleotide polymorphisms (SNPs) from expressed sequence tag (EST) database in olive flounder; out of a total 4,327 ESTs, 693 contigs and 514 SNPs were detected in total EST, and these substitutions include 297 transitions and 217 transversions. As a result, 144 SNP markers were developed on the basis of 514 SNP to selection of useful gene region, and then applied to each of eight wild and culture olive flounder (total 16 samples). In our experimental result, only 32 markers had detected polymorphism in sample, also identified 21 transitions and 11 transversions, whereas indel was not detected in polymorphic SNPs. Heterozygosity of wild and cultured olive flounder using the 32 SNP markers is 0.34 and 0.29, respectively. In conclusion, we identified SNP and polymorphism in olive flounder using newly designed marker, it supports that developed markers are suitable for SNP detection and diversity analysis in olive flounder. The outcome of this study can be basic data for researches for immunity gene and characteristic with SNP.

• Molecules and Cells
• /
• v.41 no.8
• /
• pp.781-798
• /
• 2018

Plants have evolved strategies to cope with drought stress by maximizing physiological capacity and adjusting developmental processes such as flowering time. The WOX13 orthologous group is the most conserved among the clade of WOX homeodomain-containing proteins and is found to function in both drought stress and flower development. In this study, we isolated and characterized OsWOX13 from rice. OsWOX13 was regulated spatially in vegetative organs but temporally in flowers and seeds. Overexpression of OsWOX13 (OsWOX13-ov) in rice under the rab21 promoter resulted in drought resistance and early flowering by 7-10 days. Screening of gene expression profiles in mature leaf and panicles of OsWOX13-ov showed a broad spectrum of effects on biological processes, such as abiotic and biotic stresses, exerting a cross-talk between responses. Protein binding microarray and electrophoretic mobility shift assay analyses supported ATTGATTG as the putative cis-element binding of OsWOX13. OsDREB1A and OsDREB1F, drought stress response transcription factors, contain ATTGATTG motif(s) in their promoters and are preferentially expressed in OsWOX13-ov. In addition, Heading date 3a and OsMADS14, regulators in the flowering pathway and development, were enhanced in OsWOX13-ov. These results suggest that OsWOX13 mediates the stress response and early flowering and, thus, may be a regulator of genes involved in drought escape.

• Reproductive and Developmental Biology
• /
• v.33 no.3
• /
• pp.133-137
• /
• 2009

Pluripotent embryonic stem (ES) cells isolated from inner cell mass (ICM) of blastocyst-stage embryos are capable of differentiating into various cell lineages and demonstrate germ-line transmission in experimentally produced chimeras. These cells have a great potential as tools for transgenic animal production, screening of newly-developed drugs, and cell therapy. Miniature pigs, selectively bred pigs for small size, offer several advantages over large breed pigs in biomedical research including human disease model and xenotransplantation. In the present study, factors affecting primary culture of somatic cell nuclear transfer blastocysts from miniature pigs for isolation of ES cells were investigated. Formation of primary colonies occurred only on STO cells in human ES medium. In contrast, no ICM outgrowth was observed on mouse embryonic fibroblasts (MEF) in porcine ES medium. Plating intact blastocysts and isolated ICM resulted in comparable attachment on feeder layer and primary colony formation. After subculture of ES-like colonies, two putative ES cell lines were isolated. Colonies of putative ES cells morphologically resembled murine ES cells. These cells were maintained in culture up to three passages, but lost by spontaneous differentiation. The present study demonstrates factors involved in the early stage of nuclear transfer ES cell isolation in miniature pigs. However, long-term maintenance and characterization of nuclear transfer ES cells in miniature pigs are remained to be done in further studies.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.18 no.3
• /
• pp.95-98
• /
• 2018

A striking feature of mitochondrial disorders is the vast heterogeneity in their clinical symptoms that ranges from a single organ to severe multisystem involvement. Though a variety of ocular symptoms such as ptosis, pigmentary retinal degeneration, external ophthalmoplegia, and optic nerve atrophy can occur in association with mitochondrial cytopathies, progressive bilateral cataracts are rare among their ocular findings. A 5-year-old girl with no previous medical history came to our hospital presenting symptoms of seizure. She started showing progressive developmental regression, increased seizure frequency, hypotonia, general weakness, dysphagia and decreased vision. Lactic acidosis was noted in metabolic screening test and we confirmed mitochondrial respiratory chain complex I defect in spectrophotometric enzyme assay using the muscle tissue. Progressive bilateral cataracts then developed and were fully evident at the age of 7. She underwent cataract extraction with posterior chamber lens implantation. We are reporting a case of mitochondrial respiratory chain defect with multiorgan involvements including bilateral progressive cataract, an uncommon ocular manifestation. Ophthalmologic evaluation is highly recommended not to overlook the possible ocular manifestations in mitochondrial disorders.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.22 no.2
• /
• pp.171-180
• /
• 2019

Purpose: Malnutrition may influence neurocognitive development in children by directly affecting the brain structural development, or indirectly by affecting the children's cognition experience. Malnutrition alters the cell numbers, cell migration, synaptogenesis, and neurotransmission due to inadequate availability of necessary micronutrients to support cell growth. We aimed to analyze neurocognitive development in infants with malnutrition and its association with long chain polyunsaturated fatty acids (LC-PUFA), micronutrients levels and magnetic resonance spectroscopy (MRS) findings. Methods: The study included two groups; group 1, infants with malnutrition (n=24), group 2; healthy infants (n=21). Peripheral blood was obtained from the participants for studying micronutrients and LC-PUFA levels. The neurocognitive development was analyzed by the use of an Ankara Developmental Screening Inventory test. MRS were performed on all infants. Results: All parameters of neurocognitive development and serum calcium ($9.6{\pm}0.9mg/dL$ vs. $10.4{\pm}0.3mg/dL$, p<0.05) and magnesium ($2.02{\pm}0.27mg/dL$ vs. $2.2{\pm}0.14mg/dL$, p<0.05) levels were noted as being low in infants with marked malnutrition. No difference was found in LC-PUFA levels between healthy and malnourished infants. Thalamic choline/creatine levels were significantly high in infants with malnutrition ($1.33{\pm}0.22$ vs. $1.18{\pm}0.22$, p<0.05). Total neurocognitive development in infants was positively correlated with serum calcium levels (p<0.05, r=0.381). Conclusion: Calcium supplementation may improve neurocognitive development in malnourished infants.

• Clinical and Experimental Pediatrics
• /
• v.65 no.3
• /
• pp.142-149
• /
• 2022

Background: Individuals with Down syndrome present with several impairments such as hypotonia, ligament laxity, decreased muscle strength, insufficient muscular cocontraction, inadequate postural control, and disturbed proprioception. These factors are responsible for the developmental challenges faced by children with Down syndrome. These individuals also present with balance dysfunctions. Purpose: This systematic review aims to describe the motor dysfunction and balance impairments in children and adolescents with Down syndrome. Methods: We searched the Scopus, ScienceDirect, MEDLINE, Wiley, and EBSCO databases for observational studies evaluating the motor abilities and balance performance in individuals with Down syndrome. The review was registered on PROSPERO. Results: A total of 1,096 articles were retrieved; after careful screening and scrutinizing against the inclusion and exclusion criteria, 10 articles were included in the review. Overall, the children and adolescents with Down syndrome showed delays and dysfunction in performing various activities such as sitting, pulling to stand, standing, and walking. They also presented with compensatory mechanisms to maintain their equilibrium in static and dynamic activities. Conclusion: The motor development of children with Down syndrome is significantly delayed due to structural differences in the brain. These individuals have inefficient compensatory strategies like increasing step width, increasing frequency of mediolateral center of pressure displacement, decreasing anteroposterior displacement, increasing trunk stiffness, and increasing posterior trunk displacement to maintain equilibrium. Down syndrome presents with interindividual variations; therefore, a thorough evaluation is required before a structured intervention is developed to improve motor and balance dysfunction.