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Background: Disgust is a basic emotion that involves feelings of revulsion and withdrawal behavior from dangerous/infectious situations. Very little is known about the genetic basis of disgust sensitivity. The dopamine receptor D4 (DRD4) and catechol-O-methyltransferase (COMT) genes have been implicated in neuroticism-related traits and approach-related temperaments which are supposed to be associated with disgust sensitivity. The present study aimed to investigate the possible relationship between disgust sensitivity and COMT Val158Met and DRD4 variable number of tandem repeats (VNTR) polymorphisms in healthy subjects., Methods: In total, 241 healthy Korean college students were recruited, and the 228 participants with a complete data set (127 males and 101 females) were included in the data analysis. Disgust sensitivity was assessed using the Disgust Scale-Revised (DS-R) and genotyping of COMT Val158Met and DRD4 VNTR polymorphisms was performed., Results: The Val/Val groups of COMT had significantly higher scores than the non-Val/Val group for the Animal-Reminder and the Contamination-Based Disgust scores as well as for total DS-R scores. Additionally, the non-2-repeat allele group of DRD4 had a tendency to a significantly higher disgust sensitivity than the 2-repeat allele group for Contamination-Based Disgust., Conclusions: These findings suggest that disgust sensitivity may be affected by genetic components, such as dopamine-related genes.

This case study reports a rare fibrinogen variant, gamma Met310Thr mutation, for the first time in Korea. The case shows a point mutation from T to C in the 1,007th nucleotide of the FGG gene. This report describes a variant fibrinogen, hereinafter called "fibrinogen Yecheon", using the name after the town where the patient was living at the time of diagnosis. Fibrinogen Yecheon has a de novo heterozygous point mutation of FGG resulting in gamma Met310Thr and subsequent extra N-glycosylation at gamma Asn308. Extra N-glycosylated fibrinogen is considered a main inhibitor of normal fibrinogen activity.

Aims: Neurodegenerative processes may be involved in the pathogenesis of tardive dyskinesia (TD), and a growing body of evidence suggests that brain-derived neurotrophic factor (BDNF) plays a role in both the antipsychotic effects and the pathogenesis of TD. BDNF and glycogen synthase kinase (GSK)-3beta are important in neuronal survival, and thus abnormal regulation of BDNF and GSK-3beta may contribute to TD pathophysiology. This study investigated the relationship between two polymorphisms, val66met in the BDNF coding region and -50T/C in the GSK-3beta promoter, and susceptibility to TD among a matched sample of patients having schizophrenia with TD (n = 83), patients with schizophrenia without TD (n = 78), and normal control subjects (n = 93)., Methods: All subjects were Korean. The BDNF val66met and GSK-3beta-50T/C genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism analyses., Results: Polymerase chain reaction analysis revealed no significant difference in the occurrence of the polymorphisms among the TD, non-TD, and control subjects, but a significant interaction was observed among the groups possessing BDNF val allele in compound genotypes (P = 0.001). We found that the schizophrenic subjects with the C/C GSK-3beta genotype, who carry the val allele of the BDNF gene, are expected to have a decreased risk of developing neuroleptic-induced tardive dyskinesia (P < 0.001)., Conclusions: Our results demonstrate that the GSK-3beta C/C genotype with the BDNF val allele is associated with patients having schizophrenia without TD. This study also suggests that the BDNF and GSK-3beta gene polymorphisms work in combination, but not individually, in predisposing patients with schizophrenia to TD.

We report a 38-year-old Korean man with sporadic rapid-onset dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na(+)/K(+)-ATPase alpha3 subunit gene (ATP1A3). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a wheelchair-bound state within 4 days. He is the first Asian RDP patient confirmed by genetic testing, ascertaining that RDP gene mutation is present in Asians. Pathophysiological considerations are briefly discussed., ((c) 2007 Movement Disorder Society.)

Background: It has been reported that the functional polymorphism in the serotonin transporter gene linked promoter region (5-HTTLPR) modifies the association between stressful life events (SLEs) and depression in child, adolescent, and adult populations. We sought to replicate this finding in elders and, additionally, to test modifying effects of the brain-derived neurotrophic factor (BDNF) val66met polymorphism., Methods: In 732 Korean community residents ages 65+, diagnosis of depression (Geriatric Mental State Schedule), information on SLEs, and genotypes for 5-HTTLPR and BDNF val66met were ascertained. Of those without depression at baseline, 521 (88%) were followed up 2.5 years later. Interactions between SLEs and the two genotypes were investigated for both prevalent depression at baseline and incident depression at follow-up., Results: Significant interactions of SLEs with both 5-HTTLPR and BDNF genotypes were observed on risk of depression after adjustment for age, gender, education, and disability. A significant three-way interaction between 5-HTTLPR, BDNF, and SLEs was also found. The same findings were observed for predictors of incident depression in the prospective analysis., Conclusions: These findings suggest that environmental risk of depression is modified by at least two genes and that gene-environment interactions are found even into old age.

Glycogen storage disease type II (GSD II) is an autosomal recessive disorder resulting from a deficiency of acid alpha-glucosidase (GAA, or acid maltase). In this study, we aimed to characterize phenotype and genotype in three patients with late onset GSD II in Korea. Clinically, all of our patients showed typical features of late onset GSD II with the reduced GAA enzyme activities. The respiratory difficulty preceding ambulatory failure seems to be one of the most remarkable clinical features characterizing late onset GSD II. By direct sequence analysis of PCR-amplified genomic DNA obtained from patients' skeletal muscle or peripheral leukocytes, we identified four missense mutations. Two of them (p.266Pro>Ser and p.439Met>Lys) were new missense mutations causing late onset GSD II, which had not been reported elsewhere before. One of them (p.439Met>Lys) was found in two alleles from each patient, suggesting it could be a recurrent mutation among Korean population.