• BMB Reports
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• v.56 no.8
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• pp.463-468
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• 2023

Screening for genetic defects in the cells should be examined for clinical application. The Pearson syndrome (PS) patient harbored nuclear mutations in the POLG and SSBP1 genes, which could induce systemic large-scale mitochondrial genome (mtDNA) deletion. We investigated iPSCs with mtDNA deletions in PS patient and whether deletion levels could be maintained during differentiation. The iPSC clones derived from skin fibroblasts (9% deletion) and blood mononuclear cells (24% deletion) were measured for mtDNA deletion levels. Of the 13 skin-derived iPSC clones, only 3 were found to be free of mtDNA deletions, whereas all blood-derived iPSC clones were found to be free of deletions. The iPSC clones with (27%) and without mtDNA deletion (0%) were selected and performed in vitro and in vivo differentiation, such as embryonic body (EB) and teratoma formation. After differentiation, the level of deletion was retained or increased in EBs (24%) or teratoma (45%) from deletion iPSC clone, while, the absence of deletions showed in all EBs and teratomas from deletion-free iPSC clones. These results demonstrated that non-deletion in iPSCs was maintained during in vitro and in vivo differentiation, even in the presence of nuclear mutations, suggesting that deletion-free iPSC clones could be candidates for autologous cell therapy in patients.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.28 no.1
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• pp.122-127
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• 1983

Germination and seedling emergence of 40 barley cultivars and lines having been bred in Korea were studied under different water and salt stress conditions containing different sucrose and KC1 concentration in laboratory at Suweon. This study revealed that the barley cultivars and lines differed markedly in their emergence rate index(ERI), total stand(TS), coleoptile length, seedling height, top and root weight. Those characters of the most cultivars were progressively reduced as water and salt stress increased. Jogangbori, Dongbori 1, SB 77460 and SB 77415 were less sensitive to both stress and will be useful for breeding sources. ERI was highly correlated with TS, coleoptile length and seedling height. ERI and TS between two different solutions were correlated each other, and this study indicated that for screening the varieties or lines tolerant to water and salt stress, both ways were available and should be screened genetic materials with a good germination and emergence rate in I stress conditions.

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.300-300
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• 2022

Wheat (Triticum spp.) is an important source of food worldwide and the focus of considerable efforts to identify new combinations of genetic diversity for crop improvement. In particular, wheat starch composition is a major target for changes that could benefit human health. Starches with increased levels of amylose are of interest because of the correlation between high amylose content and elevated levels of resistant starch, which has been shown to have beneficial effects on health for combating obesity and diabetes. In this study, high amylose wheat germplasms from other countries were collected and cultivated in Korea, and then the content of amylose was evaluated, we examined amylose content in 614 wheat germplasm. Furthermore, amylose content was validated using several milling processes such as roller, hammer, and grinding mill. As a result, the amylose content distribution was divided into five groups. The range of the amylose levels in whole wheat flour was 18.3% to 29.6%. In addition, the mutant lines were screened for high amylose, and two mutant lines (WX-1046 and WX-1074) exhibited a comparable amylose content to Keumkang whole wheat (19.6%). It has been established that high amylose indicated SS IIa null and necessitate GBSS. Based on these findings, it may be helpful to develop high amylose wheat germplasm and production techniques, particularly in Korea.

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.13-13
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• 2022

Recently, stable crop production is threatened by the effects of climate change. In particular, it is difficult to consistently maintain agricultural policies due to large price fluctuations depending on the difference in total domestic rice production from year to year. For stable rice production amid changes in the crop growing environment, development of varieties with improved disease resistance and abiotic stress stability is becoming more important. In here, drought and cold tolerant trait have been studied. First, for the development of drought tolerant varieties, we analyzed which agricultural traits are mainly affected by domestic drought conditions. As a result, it was observed that drought caused by the lack of water during transplanting season inhibits the development of the number of tiller and reduces the yield. 'Samgang' was selected as a useful genetic resource with strong drought tolerant and stable tiller number development even under drought conditions by phenotype screening. Three of drought tolerant QTLs were identified using doubled haploid (DH) population derived from a cross between Nacdong and Samgang, a drought sensitive and a tolerant, respectively. Among these QTLs, when qVDT2 and qVDTl1 were integrated, it was investigated that the tiller number development was relatively stable in the rainfed paddy field conditions. It is known that the high-yielding Tongil-type cultivars are severely affected by cold stress throughout the entire growth stage. In this study, we established conditions that can test the cold tolerance phenotype with alternate temperature to treat low temperatures in indoor growth conditions similar to those in field conditions at seedling stage. Three cold tolerant QTLs were explored using population derived from a cross between Hanareum2 (cold sensitive variety, Tongil-type) and Unkwang (cold tolerant variety, Japonica). Among these QTLs, qSCT12 showed strong cold tolerant phenotype, and when all of three QTLs were integrated, it was investigated that cold tolerant score was relatively similar to its donor parent, Unkwang, in our experimental conditions. We are performing that development of new variety with improved cold tolerant through the introduction of these QTLs.

• Proceedings of the Plant Resources Society of Korea Conference
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• 2022.09a
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• pp.73-73
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• 2022

Lettuce (Lactuca sativa L., Family Asteraceae) is highly ranked in production and economic value and is consumed either fresh or in salad mixes because of its important dietary source of bioactive phytochemicals. The world collection of Lactuca spp. leafy crops, maintained in NAC, includes 2,464 accessions from 71 countries around the world, of which 2,411 belong to L. sativa species, nineteen to L. saligna, and fifteen to L. serriolar. We aimed to investigate the lettuce germplasm with morphological and biochemical analyses and provide new material for breeding. The lettuce crop comprises seven main groups of cultivars (including oilseed lettuce) differing phenotypically. Agricultural characteristcs were investigated including time to bolting, time to flowering, seed color, flower color, leaf attitude, leaf color, leaf anthocyanin coloration, type of incision of margin, depth of incisions of margins, and leaf venation. Screening of the health beneficial metabolites like anthocyanin and bitter sesquiterpene lactones (lactucin and lactucopicrin) was also conducted. The range of anthocyanin and SLs were 0~563.78 mg/100g D.W. and 3.74~3311.66 ug/g D.W., respectively. The investigation of the degree of variation regarding phenotypic traits and biochemical revealed adaptive stable and highly variable use of trait collection.

• 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.

• Molecules and Cells
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• v.47 no.1
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• pp.100005.1-100005.15
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• 2024

Amyotrophic lateral sclerosis is a devastating neurodegenerative disease with a complex genetic basis, presenting both in familial and sporadic forms. The hexanucleotide (G₄C₂) repeat expansion in the C9orf72 gene, which triggers distinct pathogenic mechanisms, has been identified as a major contributor to familial and sporadic Amyotrophic lateral sclerosis cases. Animal models have proven pivotal in understanding these mechanisms; however, discrepancies between models due to variable transgene sequence, expression levels, and toxicity profiles complicate the translation of findings. Herein, we provide a systematic comparison of 7 publicly available Drosophila transgenes modeling the G₄C₂ expansion under uniform conditions, evaluating variations in their toxicity profiles. Further, we tested 3 previously characterized disease-modifying drugs in selected lines to uncover discrepancies among the tested strains. Our study not only deepens our understanding of the C9orf72 G₄C₂ mutations but also presents a framework for comparing constructs with minute structural differences. This work may be used to inform experimental designs to better model disease mechanisms and help guide the development of targeted interventions for neurodegenerative diseases, thus bridging the gap between model-based research and therapeutic application.

• Journal of Integrative Natural Science
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• v.16 no.4
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• pp.123-131
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• 2023

Breast cancer continues to pose a substantial worldwide health challenge, thereby requiring the development of innovative strategies to discover new therapeutic interventions. Signal Transducer and Activator of Transcription 3 (STAT-3) has been identified as a significant factor in the development of several types of cancer, including breast cancer. This is primarily attributed to its diverse functions in promoting tumour formation and conferring resistance to therapeutic interventions. This study presents an in silico drug repositioning approach that focuses on identifying specific inhibitors of STAT-3 for the purpose of treating breast cancer. We initially examined the structural and functional attributes of STAT-3, thereby elucidating its crucial involvement in cellular signalling cascades. A comprehensive virtual screening was performed on a diverse collection of drugs that have been approved by the FDA from zinc15 database. Various computational techniques, including molecular docking, cross docking, and cDFT analysis, were utilised in order to prioritise potential candidates. This prioritisation was based on their predicted binding energies and outer molecular orbital reactivity. The findings of our study have unveiled a Dihydroergotamine and Paritaprevir that have been approved by the FDA and exhibit considerable promise as selective inhibitors of STAT-3. In conclusion, the utilisation of our in silico drug repositioning approach presents a prompt and economically efficient method for the identification of potential compounds that warrant subsequent experimental validation as selective STAT-3 inhibitors in the context of breast cancer. The present study highlights the considerable potential of employing computational strategies to expedite the drug discovery process. Moreover, it provides valuable insights into novel avenues for targeted therapeutic interventions in the context of breast cancer treatment.

• Journal of Veterinary Science
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• v.25 no.5
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• pp.65.1-65.11
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• 2024

Importance: Recent developments in genetic analytical techniques have enabled the comprehensive analysis of gastrointestinal symbiotic bacteria as a screening tool for animal health conditions, especially the endangered gibbons at the National Wildlife Rescue Centre (NWRC). Objective: High-throughput sequencing based on 16S ribosomal RNA genes was used to determine the baseline gut bacterial composition and identify potential pathogenic bacteria among three endangered gibbons housed in the NWRC. Methods: Feces were collected from 14 individuals (Hylobates lar, n = 9; Hylobates agilis, n = 4; and Symphalangus syndactylus, n = 1) from March to November 2022. Amplicon sequencing were conducted by targeting V3-V4 region. Results: The fecal microbial community of the study gibbons was dominated by Bacteroidetes and Firmicutes (phylum level), Prevotellaceae and Lachnospiraceae/Muribaculaceae (family level), and Prevotella (and its subgroups) (genera level). This trend suggests that the microbial community composition of the study gibbons differed insignificantly from previously reported conspecific or closely related gibbon species. Conclusions and Relevance: This study showed no serious health problems that require immediate attention. However, relatively low alpha diversity and few potential bacteria related to gastrointestinal diseases and streptococcal infections were detected. Information on microbial composition is essential as a guideline to sustain a healthy gut condition of captive gibbons in NWRC, especially before releasing this primate back into the wild or semi-wild environment. Further enhanced husbandry environments in the NWRC are expected through continuous health monitoring and increase diversity of the gut microbiota through diet diversification.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.52 no.2
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• pp.140-145
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• 2007

This study was carried out to develop effective test method by soybean stink bug and to screen resistant genetic resources against soybean stink bug. The damage pod rate by stink bug showed 40% of most soybean varieties and was selected about 10% low of 10 varieties by 298 variety and degree in soybean at first year Stink bug damage rate research for 102 varieties that stink bug damage rate lowed at first year showed 10% low of 12 varieties and from 20% to 30% of the other varieties. So testing material is "Ilpumgeumjeongkong" to develop for effective test method soybean stink bug and result for stink bug damage rate research of according to growth stage showed rapidly high more full seed than full pod. Full seed stage (R6) was highest to 35.5% for stink bug damage rate. Result of resistant genetic resources selection according to stink bug damage pod rate was lowed of best to 10.3% for "Peking, Sorogkong, Hwangsaegjunjeari and Sobaeknamulkong" in the order. Also, stink bug damage seed rate was similar too. So "Peking, Sorogkong, Hwangsaegjunjeari and Sobaeknamulkong" were thought resistant variety against stink bug. Additional study carried out with "Peking and Sorogkong" so that concretely investigate about stink bug's refuse reaction. This result showed 10.0% for Peking and 14.2% for Sorogkong at R6 stage. But, damage pod rate was rapidly lowed.