1.Single-Molecule Imaging of Membrane Proteins on Vascular Endothelial Cells
Jiseong PARK ; Siwoo JIN ; Juhee JANG ; Daeha SEO
Journal of Lipid and Atherosclerosis 2023;12(1):58-72
Transporting substances such as gases, nutrients, waste, and cells is the primary function of blood vessels. Vascular cells use membrane proteins to perform crucial endothelial functions, including molecular transport, immune cell infiltration, and angiogenesis.A thorough understanding of these membrane receptors from a clinical perspective is warranted to gain insights into the pathogenesis of vascular diseases and to develop effective methods for drug delivery through the vascular endothelium. This review summarizes stateof-the-art single-molecule imaging techniques, such as super-resolution microscopy, singlemolecule tracking, and protein–protein interaction analysis, for observing and studying membrane proteins. Furthermore, recent single-molecule studies of membrane proteins such as cadherins, integrins, caveolins, transferrin receptors, vesicle-associated protein-1, and vascular endothelial growth factor receptor are discussed.
2.Heritabilities of Facial Measurements and Their Latent Factors in Korean Families.
Hyun Jin KIM ; Sun Wha IM ; Ganchimeg JARGAL ; Siwoo LEE ; Jae Hyuk YI ; Jeong Yeon PARK ; Joohon SUNG ; Sung Il CHO ; Jong Yeol KIM ; Jong Il KIM ; Jeong Sun SEO
Genomics & Informatics 2013;11(2):83-92
Genetic studies on facial morphology targeting healthy populations are fundamental in understanding the specific genetic influences involved; yet, most studies to date, if not all, have been focused on congenital diseases accompanied by facial anomalies. To study the specific genetic cues determining facial morphology, we estimated familial correlations and heritabilities of 14 facial measurements and 3 latent factors inferred from a factor analysis in a subset of the Korean population. The study included a total of 229 individuals from 38 families. We evaluated a total of 14 facial measurements using 2D digital photographs. We performed factor analysis to infer common latent variables. The heritabilities of 13 facial measurements were statistically significant (p < 0.05) and ranged from 0.25 to 0.61. Of these, the heritability of intercanthal width in the orbital region was found to be the highest (h2 = 0.61, SE = 0.14). Three factors (lower face portion, orbital region, and vertical length) were obtained through factor analysis, where the heritability values ranged from 0.45 to 0.55. The heritability values for each factor were higher than the mean heritability value of individual original measurements. We have confirmed the genetic influence on facial anthropometric traits and suggest a potential way to categorize and analyze the facial portions into different groups.
Cues
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Facial Bones
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Factor Analysis, Statistical
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Genetic Research
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Humans
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Orbit
3.ERRATUM: Author's Affiliation Correction. Heritabilities of Facial Measurements and Their Latent Factors in Korean Families.
Hyun Jin KIM ; Sun Wha IM ; Ganchimeg JARGAL ; Siwoo LEE ; Jae Hyuk YI ; Jeong Yeon PARK ; Joohon SUNG ; Sung Il CHO ; Jong Yeol KIM ; Jong Il KIM ; Jeong Sun SEO
Genomics & Informatics 2013;11(3):161-161
This erratum is being published to correct the author's affiliation.
4.No Association between (AAT)n Repeat Polymorphisms in the Cannabinoid Receptor 1 Gene and Smooth Pursuit Eye Movement Abnormality in Korean Patients with Schizophrenia.
Min Jae KIM ; Chae Ri KIM ; Jin Wan PARK ; Doo Hyun PAK ; Hyoung Doo SHIN ; Ihn Geun CHOI ; Sang Woo HAHN ; Jaeuk HWANG ; Yeon Jung LEE ; Sung Il WOO
Journal of the Korean Society of Biological Psychiatry 2016;23(4):148-156
OBJECTIVES: According to previous studies, the cannabinoid receptor 1 (CNR1) gene could be an important candidate gene for schizophrenia. Some studies have linked the (AAT)n trinucleotide repeat polymorphism in CNR1 gene with the risk of schizophrenia. Meanwhile, smooth pursuit eye movement (SPEM) has been regarded as one of the most consistent endophenotypes of schizophrenia. In this study, we investigated the association between the (AAT)n trinucleotide repeats in CNR1 gene and SPEM abnormality in Korean patients with schizophrenia. METHODS: We measured SPEM function in 167 Korean patients with schizophrenia (84 male, 83 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated allele frequencies of (AAT)n repeat polymorphisms on CNR1 gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of (AAT)n trinucleotide repeats. RESULTS: The natural logarithm value of signal/noise ratio (Ln S/N ratio) of the good SPEM function group was 4.34 ± 0.29 and that of the poor SPEM function group was 3.21 ± 0.70. In total, 7 types of trinucleotide repeats were identified, each containing 7, 10, 11, 12, 13, 14, and 15 repeats, respectively. In the patients with (AAT)₇ allele, the distributions of the good and poor SPEM function groups were 18 (11.1%) and 19 (11.0%) respectively. In the patients with (AAT)₁₀ allele, (AAT)₁₁ allele, (AAT)₁₂ allele, (AAT)₁₃ allele, (AAT)₁₄ allele and (AAT)₁₅ allele, the distributions of good and poor SPEM function groups were 13 (8.0%) and 12 (7.0%), 4 (2.5%) and 6 (3.5%), 31 (19.8%) and 35 (20.3%), 51 (31.5%) and 51 (29.7%), 36 (22.2%) and 45 (26.2%), 9 (5.6%) and 4 (2.3%) respectively. As the number of (AAT) n repeat increased, there was no aggravation of abnormality of SPEM function. CONCLUSIONS: There was no significant aggravation of SPEM abnormality along with the increase of number of (AAT)n trinucleotide repeats in the CNR1 gene in Korean patients with schizophrenia.
Alleles
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Endophenotypes
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Eye Movements*
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Gene Frequency
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Humans
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Logistic Models
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Male
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Pursuit, Smooth*
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Receptors, Cannabinoid*
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Schizophrenia*
;
Trinucleotide Repeats
5.Association Analysis between Chromogranin B Genetic Variations and Smooth Pursuit Eye Movement Abnormality in Korean Patients with Schizophrenia.
Jin Wan PARK ; Doo Hyun PAK ; Min Gyu HWANG ; Min Ji LEE ; Hyoung Doo SHIN ; Tae Min SHIN ; Sang Woo HAHN ; Jaeuk HWANG ; Yeon Jung LEE ; Sung Il WOO
Journal of the Korean Society of Biological Psychiatry 2018;25(4):101-109
OBJECTIVES: According to previous studies, the Chromogranin B (CHGB) gene could be an important candidate gene for schizophrenia which is located on chromosome 20p12.3. Some studies have linked the polymorphism in CHGB gene with the risk of schizophrenia. Meanwhile, smooth pursuit eye movement (SPEM) abnormality has been regarded as one of the most consistent endophenotype of schizophrenia. In this study, we investigated the association between the polymorphisms in CHGB gene and SPEM abnormality in Korean patients with schizophrenia. METHODS: We measured SPEM function in 24 Korean patients with schizophrenia (16 male, 8 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated genotypes of polymorphisms in CHGB gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of polymorphism. RESULTS: The natural logarithm value of signal/noise ratio (Ln S/N ratio) of good SPEM function group was 4.19 ± 0.19 and that of poor SPEM function group was 3.17 ± 0.65. In total, 15 single nucleotide polymorphisms of CHGB were identified and the genotypes were divided into C/C, C/R, and R/R. Statistical analysis revealed that two genetic variants (rs16991480, rs76791154) were associated with SPEM abnormality in schizophrenia (p = 0.004). CONCLUSIONS: Despite the limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may be associated with SPEM abnormality and provide useful preliminary information for further study.
Chromogranin B*
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Endophenotypes
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Eye Movements*
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Genetic Variation*
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Genotype
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Humans
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Logistic Models
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Male
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Polymorphism, Single Nucleotide
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Pursuit, Smooth*
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Schizophrenia*