1.Epigenetic Insights into Autism Spectrum Disorder: DNA Methylation Levels of NR3C1, ASCL1, and FOXO3 in Korean Autism Spectrum Disorder Sibling Pairs
Miae OH ; Nan-He YOON ; Soon Ae KIM ; Hee Jeong YOO
Clinical Psychopharmacology and Neuroscience 2024;22(4):635-645
Objective:
Previous research on autism spectrum disorder (ASD) in Koreans has primarily focused on genetic diversity because of its high heritability. However, the emerging recognition of transgenerational epigenetic changes has recently shifted research attention towards epigenetic perspectives.
Methods:
This study investigated the DNA methylation patterns of the promoter regions of candidate genes such asNR3C1, ASCL1, and FOXO3 in blood samples from ASD probands and their unaffected siblings. The analysis included 54 families (ASD proband group: 54; unaffected biological sibling group: 63). The diagnostic process involved screening the probands and their siblings for ASD based on the Diagnostic and Statistical Manual of Mental Disorders 5th edition.Intelligence, social ability, and medical history were thoroughly assessed using various scales and questionnaires.Genomic DNA from blood samples was analyzed using a methylation-sensitive quantitative polymerase chain reaction to examine the DNA methylation status of candidate genes.
Results:
Methylation levels in candidate gene promoter regions differed significantly between the proband and sibling groups for all candidate genes. Correlation analysis between the proband and sibling groups revealed strong and significant correlations in NR3C1 and ASCL1 methylation. Additionally, in the analysis of the relationship between DNA and ASD phenotypes, FOXO3 methylation correlated with social quotient in probands, and ASCL1 methylation was associated with nonverbal communication, and daily living skills as measured by the Korean Vineland Adaptive Behavior Scale. Notably, ASCL1 methylation was significantly associated with parental age at pregnancy.
Conclusion
This study proposes DNA methylation of NR3C1, ASCL1, and FOXO3 in peripheral blood samples is a potential epigenetic biomarker of ASD.
2.Effects of quercetin nanoemulsion on SIRT1 activation and mitochondrial biogenesis in the skeletal muscle of high-fat diet-fed mice
Mak-Soon LEE ; Miae DOO ; Yangha KIM
Nutrition Research and Practice 2024;18(6):806-817
BACKGROUND/OBJECTIVES:
Quercetin (QT) is a plant flavonoid that offers health benefits owing to its various bioactive properties; however, as a hydrophobic substance, it has considerably low bioavailability. We previously demonstrated that QT nanoemulsion (QT+NE) formulated via oil-in-water nanoemulsification exhibited more effective cholesterollowering activity than ordinary QT in high cholesterol-fed rats. In this study, we investigated the effects of QT+NE on the regulation of skeletal muscle mitochondrial function in high-fat diet (HD)-fed mice.MATERIALS/METHODS: C57BL/6J mice were fed a normal chow diet (ND), HD (45% of calories from fat), or HD with 0.05% QT+NE or QT for 11 weeks. We analyzed sirtuin 1 (SIRT1) activation, mitochondrial changes, and the expression of genes involved in mitochondrial biogenesis in skeletal muscle.
RESULTS:
Body weight and body weight gain decreased in the QT+NE group compared with that in the HD group (P < 0.05), but not in the QT group. Epididymal adipose tissue weight decreased in both the QT and QT+NE groups (P < 0.05). Plasma lipid levels also improved in both the QT and QT+NE groups (P < 0.05). QT+NE intake upregulated the messenger RNA levels of SIRT1, peroxisome proliferator-activated receptor-γ coactivator 1-α, nuclear respiratory factor 1, and mitochondrial transcription factor A in skeletal muscle compared with HD intake alone (P < 0.05), whereas QT did not. In particular, SIRT1 activity was significantly increased in the QT+NE group compared with that in the QT group (P < 0.05).HD intake reduced mitochondrial DNA content compared with ND intake; nevertheless, QT+NE intake retained it (P < 0.05).
CONCLUSION
Collectively, our findings suggest that QT+NE may be beneficial in enhancing mitochondrial biogenesis in skeletal muscle of HD-fed mice, which may be associated with SIRT1 activation.
3.Effects of quercetin nanoemulsion on SIRT1 activation and mitochondrial biogenesis in the skeletal muscle of high-fat diet-fed mice
Mak-Soon LEE ; Miae DOO ; Yangha KIM
Nutrition Research and Practice 2024;18(6):806-817
BACKGROUND/OBJECTIVES:
Quercetin (QT) is a plant flavonoid that offers health benefits owing to its various bioactive properties; however, as a hydrophobic substance, it has considerably low bioavailability. We previously demonstrated that QT nanoemulsion (QT+NE) formulated via oil-in-water nanoemulsification exhibited more effective cholesterollowering activity than ordinary QT in high cholesterol-fed rats. In this study, we investigated the effects of QT+NE on the regulation of skeletal muscle mitochondrial function in high-fat diet (HD)-fed mice.MATERIALS/METHODS: C57BL/6J mice were fed a normal chow diet (ND), HD (45% of calories from fat), or HD with 0.05% QT+NE or QT for 11 weeks. We analyzed sirtuin 1 (SIRT1) activation, mitochondrial changes, and the expression of genes involved in mitochondrial biogenesis in skeletal muscle.
RESULTS:
Body weight and body weight gain decreased in the QT+NE group compared with that in the HD group (P < 0.05), but not in the QT group. Epididymal adipose tissue weight decreased in both the QT and QT+NE groups (P < 0.05). Plasma lipid levels also improved in both the QT and QT+NE groups (P < 0.05). QT+NE intake upregulated the messenger RNA levels of SIRT1, peroxisome proliferator-activated receptor-γ coactivator 1-α, nuclear respiratory factor 1, and mitochondrial transcription factor A in skeletal muscle compared with HD intake alone (P < 0.05), whereas QT did not. In particular, SIRT1 activity was significantly increased in the QT+NE group compared with that in the QT group (P < 0.05).HD intake reduced mitochondrial DNA content compared with ND intake; nevertheless, QT+NE intake retained it (P < 0.05).
CONCLUSION
Collectively, our findings suggest that QT+NE may be beneficial in enhancing mitochondrial biogenesis in skeletal muscle of HD-fed mice, which may be associated with SIRT1 activation.
4.Effects of quercetin nanoemulsion on SIRT1 activation and mitochondrial biogenesis in the skeletal muscle of high-fat diet-fed mice
Mak-Soon LEE ; Miae DOO ; Yangha KIM
Nutrition Research and Practice 2024;18(6):806-817
BACKGROUND/OBJECTIVES:
Quercetin (QT) is a plant flavonoid that offers health benefits owing to its various bioactive properties; however, as a hydrophobic substance, it has considerably low bioavailability. We previously demonstrated that QT nanoemulsion (QT+NE) formulated via oil-in-water nanoemulsification exhibited more effective cholesterollowering activity than ordinary QT in high cholesterol-fed rats. In this study, we investigated the effects of QT+NE on the regulation of skeletal muscle mitochondrial function in high-fat diet (HD)-fed mice.MATERIALS/METHODS: C57BL/6J mice were fed a normal chow diet (ND), HD (45% of calories from fat), or HD with 0.05% QT+NE or QT for 11 weeks. We analyzed sirtuin 1 (SIRT1) activation, mitochondrial changes, and the expression of genes involved in mitochondrial biogenesis in skeletal muscle.
RESULTS:
Body weight and body weight gain decreased in the QT+NE group compared with that in the HD group (P < 0.05), but not in the QT group. Epididymal adipose tissue weight decreased in both the QT and QT+NE groups (P < 0.05). Plasma lipid levels also improved in both the QT and QT+NE groups (P < 0.05). QT+NE intake upregulated the messenger RNA levels of SIRT1, peroxisome proliferator-activated receptor-γ coactivator 1-α, nuclear respiratory factor 1, and mitochondrial transcription factor A in skeletal muscle compared with HD intake alone (P < 0.05), whereas QT did not. In particular, SIRT1 activity was significantly increased in the QT+NE group compared with that in the QT group (P < 0.05).HD intake reduced mitochondrial DNA content compared with ND intake; nevertheless, QT+NE intake retained it (P < 0.05).
CONCLUSION
Collectively, our findings suggest that QT+NE may be beneficial in enhancing mitochondrial biogenesis in skeletal muscle of HD-fed mice, which may be associated with SIRT1 activation.
5.Epigenetic Insights into Autism Spectrum Disorder: DNA Methylation Levels of NR3C1, ASCL1, and FOXO3 in Korean Autism Spectrum Disorder Sibling Pairs
Miae OH ; Nan-He YOON ; Soon Ae KIM ; Hee Jeong YOO
Clinical Psychopharmacology and Neuroscience 2024;22(4):635-645
Objective:
Previous research on autism spectrum disorder (ASD) in Koreans has primarily focused on genetic diversity because of its high heritability. However, the emerging recognition of transgenerational epigenetic changes has recently shifted research attention towards epigenetic perspectives.
Methods:
This study investigated the DNA methylation patterns of the promoter regions of candidate genes such asNR3C1, ASCL1, and FOXO3 in blood samples from ASD probands and their unaffected siblings. The analysis included 54 families (ASD proband group: 54; unaffected biological sibling group: 63). The diagnostic process involved screening the probands and their siblings for ASD based on the Diagnostic and Statistical Manual of Mental Disorders 5th edition.Intelligence, social ability, and medical history were thoroughly assessed using various scales and questionnaires.Genomic DNA from blood samples was analyzed using a methylation-sensitive quantitative polymerase chain reaction to examine the DNA methylation status of candidate genes.
Results:
Methylation levels in candidate gene promoter regions differed significantly between the proband and sibling groups for all candidate genes. Correlation analysis between the proband and sibling groups revealed strong and significant correlations in NR3C1 and ASCL1 methylation. Additionally, in the analysis of the relationship between DNA and ASD phenotypes, FOXO3 methylation correlated with social quotient in probands, and ASCL1 methylation was associated with nonverbal communication, and daily living skills as measured by the Korean Vineland Adaptive Behavior Scale. Notably, ASCL1 methylation was significantly associated with parental age at pregnancy.
Conclusion
This study proposes DNA methylation of NR3C1, ASCL1, and FOXO3 in peripheral blood samples is a potential epigenetic biomarker of ASD.
6.Epigenetic Insights into Autism Spectrum Disorder: DNA Methylation Levels of NR3C1, ASCL1, and FOXO3 in Korean Autism Spectrum Disorder Sibling Pairs
Miae OH ; Nan-He YOON ; Soon Ae KIM ; Hee Jeong YOO
Clinical Psychopharmacology and Neuroscience 2024;22(4):635-645
Objective:
Previous research on autism spectrum disorder (ASD) in Koreans has primarily focused on genetic diversity because of its high heritability. However, the emerging recognition of transgenerational epigenetic changes has recently shifted research attention towards epigenetic perspectives.
Methods:
This study investigated the DNA methylation patterns of the promoter regions of candidate genes such asNR3C1, ASCL1, and FOXO3 in blood samples from ASD probands and their unaffected siblings. The analysis included 54 families (ASD proband group: 54; unaffected biological sibling group: 63). The diagnostic process involved screening the probands and their siblings for ASD based on the Diagnostic and Statistical Manual of Mental Disorders 5th edition.Intelligence, social ability, and medical history were thoroughly assessed using various scales and questionnaires.Genomic DNA from blood samples was analyzed using a methylation-sensitive quantitative polymerase chain reaction to examine the DNA methylation status of candidate genes.
Results:
Methylation levels in candidate gene promoter regions differed significantly between the proband and sibling groups for all candidate genes. Correlation analysis between the proband and sibling groups revealed strong and significant correlations in NR3C1 and ASCL1 methylation. Additionally, in the analysis of the relationship between DNA and ASD phenotypes, FOXO3 methylation correlated with social quotient in probands, and ASCL1 methylation was associated with nonverbal communication, and daily living skills as measured by the Korean Vineland Adaptive Behavior Scale. Notably, ASCL1 methylation was significantly associated with parental age at pregnancy.
Conclusion
This study proposes DNA methylation of NR3C1, ASCL1, and FOXO3 in peripheral blood samples is a potential epigenetic biomarker of ASD.
7.Effects of quercetin nanoemulsion on SIRT1 activation and mitochondrial biogenesis in the skeletal muscle of high-fat diet-fed mice
Mak-Soon LEE ; Miae DOO ; Yangha KIM
Nutrition Research and Practice 2024;18(6):806-817
BACKGROUND/OBJECTIVES:
Quercetin (QT) is a plant flavonoid that offers health benefits owing to its various bioactive properties; however, as a hydrophobic substance, it has considerably low bioavailability. We previously demonstrated that QT nanoemulsion (QT+NE) formulated via oil-in-water nanoemulsification exhibited more effective cholesterollowering activity than ordinary QT in high cholesterol-fed rats. In this study, we investigated the effects of QT+NE on the regulation of skeletal muscle mitochondrial function in high-fat diet (HD)-fed mice.MATERIALS/METHODS: C57BL/6J mice were fed a normal chow diet (ND), HD (45% of calories from fat), or HD with 0.05% QT+NE or QT for 11 weeks. We analyzed sirtuin 1 (SIRT1) activation, mitochondrial changes, and the expression of genes involved in mitochondrial biogenesis in skeletal muscle.
RESULTS:
Body weight and body weight gain decreased in the QT+NE group compared with that in the HD group (P < 0.05), but not in the QT group. Epididymal adipose tissue weight decreased in both the QT and QT+NE groups (P < 0.05). Plasma lipid levels also improved in both the QT and QT+NE groups (P < 0.05). QT+NE intake upregulated the messenger RNA levels of SIRT1, peroxisome proliferator-activated receptor-γ coactivator 1-α, nuclear respiratory factor 1, and mitochondrial transcription factor A in skeletal muscle compared with HD intake alone (P < 0.05), whereas QT did not. In particular, SIRT1 activity was significantly increased in the QT+NE group compared with that in the QT group (P < 0.05).HD intake reduced mitochondrial DNA content compared with ND intake; nevertheless, QT+NE intake retained it (P < 0.05).
CONCLUSION
Collectively, our findings suggest that QT+NE may be beneficial in enhancing mitochondrial biogenesis in skeletal muscle of HD-fed mice, which may be associated with SIRT1 activation.
8.Epigenetic Insights into Autism Spectrum Disorder: DNA Methylation Levels of NR3C1, ASCL1, and FOXO3 in Korean Autism Spectrum Disorder Sibling Pairs
Miae OH ; Nan-He YOON ; Soon Ae KIM ; Hee Jeong YOO
Clinical Psychopharmacology and Neuroscience 2024;22(4):635-645
Objective:
Previous research on autism spectrum disorder (ASD) in Koreans has primarily focused on genetic diversity because of its high heritability. However, the emerging recognition of transgenerational epigenetic changes has recently shifted research attention towards epigenetic perspectives.
Methods:
This study investigated the DNA methylation patterns of the promoter regions of candidate genes such asNR3C1, ASCL1, and FOXO3 in blood samples from ASD probands and their unaffected siblings. The analysis included 54 families (ASD proband group: 54; unaffected biological sibling group: 63). The diagnostic process involved screening the probands and their siblings for ASD based on the Diagnostic and Statistical Manual of Mental Disorders 5th edition.Intelligence, social ability, and medical history were thoroughly assessed using various scales and questionnaires.Genomic DNA from blood samples was analyzed using a methylation-sensitive quantitative polymerase chain reaction to examine the DNA methylation status of candidate genes.
Results:
Methylation levels in candidate gene promoter regions differed significantly between the proband and sibling groups for all candidate genes. Correlation analysis between the proband and sibling groups revealed strong and significant correlations in NR3C1 and ASCL1 methylation. Additionally, in the analysis of the relationship between DNA and ASD phenotypes, FOXO3 methylation correlated with social quotient in probands, and ASCL1 methylation was associated with nonverbal communication, and daily living skills as measured by the Korean Vineland Adaptive Behavior Scale. Notably, ASCL1 methylation was significantly associated with parental age at pregnancy.
Conclusion
This study proposes DNA methylation of NR3C1, ASCL1, and FOXO3 in peripheral blood samples is a potential epigenetic biomarker of ASD.
9.Effects of quercetin nanoemulsion on SIRT1 activation and mitochondrial biogenesis in the skeletal muscle of high-fat diet-fed mice
Mak-Soon LEE ; Miae DOO ; Yangha KIM
Nutrition Research and Practice 2024;18(6):806-817
BACKGROUND/OBJECTIVES:
Quercetin (QT) is a plant flavonoid that offers health benefits owing to its various bioactive properties; however, as a hydrophobic substance, it has considerably low bioavailability. We previously demonstrated that QT nanoemulsion (QT+NE) formulated via oil-in-water nanoemulsification exhibited more effective cholesterollowering activity than ordinary QT in high cholesterol-fed rats. In this study, we investigated the effects of QT+NE on the regulation of skeletal muscle mitochondrial function in high-fat diet (HD)-fed mice.MATERIALS/METHODS: C57BL/6J mice were fed a normal chow diet (ND), HD (45% of calories from fat), or HD with 0.05% QT+NE or QT for 11 weeks. We analyzed sirtuin 1 (SIRT1) activation, mitochondrial changes, and the expression of genes involved in mitochondrial biogenesis in skeletal muscle.
RESULTS:
Body weight and body weight gain decreased in the QT+NE group compared with that in the HD group (P < 0.05), but not in the QT group. Epididymal adipose tissue weight decreased in both the QT and QT+NE groups (P < 0.05). Plasma lipid levels also improved in both the QT and QT+NE groups (P < 0.05). QT+NE intake upregulated the messenger RNA levels of SIRT1, peroxisome proliferator-activated receptor-γ coactivator 1-α, nuclear respiratory factor 1, and mitochondrial transcription factor A in skeletal muscle compared with HD intake alone (P < 0.05), whereas QT did not. In particular, SIRT1 activity was significantly increased in the QT+NE group compared with that in the QT group (P < 0.05).HD intake reduced mitochondrial DNA content compared with ND intake; nevertheless, QT+NE intake retained it (P < 0.05).
CONCLUSION
Collectively, our findings suggest that QT+NE may be beneficial in enhancing mitochondrial biogenesis in skeletal muscle of HD-fed mice, which may be associated with SIRT1 activation.
10.Prevalence of Helicobacter pylori infection and clarithromycin resistance rate from 2015 to 2018 using the laboratory information system of the Seegene Medical Foundation in Korea: a repeated cross-sectional study
Sunkyung JUNG ; Mi-Na KIM ; Dongeun YONG ; Miae LEE ; Jongwook LEE ; Hae Kyung LEE ; Mi-Kyung LEE ;
Annals of Clinical Microbiology 2024;27(1):19-30
Background:
Numerous studies have examined the prevalence of Helicobacter pylori infection and clarithromycin (CLA) resistance rate of H. pylori. However, in South Korea, there is a lack of research analyzing specimens from local clinics and hospitals using molecular methods. This study aimed to assess the prevalence of H. pylori infection and CLA resistance across sex and age groups, as well as to explore regional variations in CLA resistance and its characteristics.
Methods:
Data from a laboratory information system from 2015 to 2018 were retrospectively analyzed to determine the prevalence of H. pylori infection and CLA resistance rate. The 23S ribosomal RNA genes of H. pylori were analyzed using a dual priming oligonucleotide-based multiplex polymerase chain reaction method.
Results:
The overall prevalence of H. pylori infection was 50.5%(12,000/23,773), with a significantly higher prevalence among males (53.5%) than females (47.0%). The CLA resistance rate was 28.3%, with a significantly higher rate among females (34.9%) than males (23.8%). Age group analysis revealed that the highest prevalence of H. pylori infection was among individuals in their 40s, whereas the highest CLA resistance rate was observed among those in their 60s. The CLA resistance rate exhibited an upward trend and varied among patients based on their place of residence, and A2143G mutation was the most prevalent across all regions.
Conclusion
The prevalence of H. pylori infection and CLA resistance rate in Korea remain high and vary according to sex, age, and region. To effectively eradicate H. pylori, it is crucial to periodically monitor regional CLA resistance patterns and conduct CLA susceptibility testing before prescription.

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