• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.22 no.1
• /
• pp.15-20
• /
• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

• Korean Journal of Biological Psychiatry
• /
• v.20 no.4
• /
• pp.136-143
• /
• 2013

Objectives We reviewed cellular and synaptic dysconnectivity, disturbances in micro- and macro- circuitries, and neurodevelopmentally-derived disruptions of neural connectivity in the pathogenesis of schizophrenia. Method We reviewed the selected articles about disturbances in neural circuits which had been proposed as a pathogenetic mechanism of schizophrenia. Results The literature review reveals that schizophrenia may be a disease related to disturbance in neurodevelopmental mechanism, shown as 'a misconnection syndrome of neural circuit or neural network'. In descriptive psychopathological view, definition of a disorder of brain connectivity has limitation to explain other aspects of schizophrenia including deterministic strictness in thought process. Conclusion Schizophrenia is considered as a disorder of brain connectivity as well as a neurodevelopmental disorder related with genetic and environmental factors. We could make a suggestion that "JoHyeonByung (attunement disorder)" denotes the disturbances of psychic fine-tuning which correspond to the neural correlates of brain dysconnectivity metaphorically.

• Biomolecules & Therapeutics
• /
• v.16 no.4
• /
• pp.312-319
• /
• 2008

Attention deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by hyperactivity, inattention, and impulsiveness. Current estimates suggest that 4-12% of school age children are affected by ADHD, which hampers proper social relationship and achievements in school. Even though the exact etiology of the disorder is still in the middle of active investigation, the availability of pharmacological treatments for the disorder suggest that at least the symptoms of ADHD are manageable. To develop drugs with higher efficacy and fewer side effects, it is essential to have appropriate animal models for in vivo drug screening processes. Good animal models can also provide the chances to improve our understanding of the disease processes as well as the underlying etiology of the disorder. In this review, we summarized current animal models used for ADHD research and discussed the point of concerns about using specific animal models.

• Development and Reproduction
• /
• v.16 no.3
• /
• pp.169-175
• /
• 2012

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability and autism. The genetic cause is the absence of UBE3A, an E3 ubiquitin ligase, from the maternal chromosome which can arise from multiple origins. Recently discovered targets of Ube3a are important for activity dependent changes in synaptic transmission and spine morphology. Plasticity studies in an AS mouse model is important for basic plasticity research with regard to understanding protein homeostasis as well as the search for therapeutic targets for the patients. The progress on synaptic plasticity from this unique disorder is reviewed.

• CELLMED
• /
• v.3 no.4
• /
• pp.30.1-30.3
• /
• 2013

Eruptive xanthomas that are characterized by yellowish red papules results from hyperlipidemia, particularly hypertriglyceridemia. The hyperlipidemia responsible for this disorder can be caused by a primary genetic defect, a secondary disorder, or both. Some medications such as estrogen or retinoid treatments may cause eruptive xantomas by increasing serum lipids. We present a case eruptive xantomas triggered by hawthorn vinegar.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.16 no.2
• /
• pp.183-191
• /
• 2005

Tic disorder including Tourette's disorder is a neurodevelopmental disorder that appears in childhood and characterized by the presence of motor and vocal tics. Childhood-onset obsessive-compulsive disorder (OCD) is suggested to be a phenomenologically and etiologically distinct subtype of OCD, bearing a close genetic relationship to tic-disorders. Tourette's disorder and OCD are comorbid in $40-75\%$ of patients initially diagnosed with either disorder. Basal ganglia and cortico-striato-thalamic circuits are implicated in the pathophysiology of both disorders and these disorders have similar clinical features. Over the past decades, the progress in research on Tourette's disorder and OCD has been extraordinary. This review describes some of important insights from these work, involving these areas : 1) clinical implication 2) genetics and epidemiology 3) brain imaging study 4) neuroche-mistry 5) pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS).

• Korean Journal of Biological Psychiatry
• /
• v.10 no.1
• /
• pp.80-84
• /
• 2003

Objective : Bipolar disorder is known to have strong genetic background and cellular immune activation. Based on the hypothesis that abnormalities of normal inhibitory control of T cell immunity can contribute to the pathophysiology of bipolar disorder, we investigated the relationship between the first exon at position +49(A/G) polymorphism of cytotoxic T lymphocyte antigen 4(CTLA4) gene and bipolar disorder. Method : Among the Korean patients diagnosed as bipolar disorder according to DSM-IV, 90 patients without serious medical illness, neurologic illness, hormonal disorder, or concomitant mental illness were selected. The normal control group consisted of 149 age-and sex-matched subjects without current or past history of autoimmune diseases or mental disorder. DNA was extracted from whole blood and the exon 1 region of CTLA-4 gene was amplified by polymerase chain reaction. Gene typing was performed using single strand conformation polymorphism. Results : There were no significant differences in genotype frequencies of G/G, G/A, and A/A between the patients with bipolar disorder and the control group(48.9% vs 46.3%, 44.4% vs 39.6%, and 6.7% vs 14.1%, respectively). There were no significant differences in allelic frequencies of G and A between the patients with bipolar disorder and the control group(71.1% vs 66.1%, and 28.9% vs 33.9%, respectively). Conclusion : This study did not show the association of exon 1 polymorphism of CTLA-4 gene with bipolar disorder.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.16 no.2
• /
• pp.199-210
• /
• 2005

Objective : Attention deficit hyperactivity disorder(ADHD) affects $5-10\%$ of children in Korea, with more boys and girls being diagnosed. Despite seriousness of ADHD, little is known about its causes. From the current genetic epidemiologic studies, ADHD is known as a heritable disorder. Till now, however, there have been very few genetic studies about ADHD in Korea. The aim of the this study is to examine the association between dopamine transporter gone type 1 and ADHD using case-control design in Korean ADHD probands and normal controls. Materials and Method : Child Psychiatric Genetic research team in Seoul National University Hospital, Clinical Research Institute recruited the ADHD probands using clinical interview/observation, diverse rating scales, and neuropsychological tests. For eliminating phenocopy or ADHD, diagnosis of ADHD was based upon clinical data, psychometric data, and parent/teacher reports. Total 85 ADHD-probands were recruited as final study subjects and independent 100 normal adults participated in this study as control group. For all the ADHD probands, and controls, the 3'-UTR-VNTR polymorphism of DAT1 was analyzed. Based on the DAT1 allele and genotype informations, Chi-square test based on case-control design was performed. Results : As for genetic study, total of 85 probands and 100 controls were included for the genetic analysis. Four different alleles, 350bp (7repeat), 440bp (9repeat), 480bp (10repeat) and 520bp (11repeat) were found in DAT1 gene of study subjects. In case-control analysis, ADHD probands and parents have significantly more 9 repeat allele and 9/10 genotype. Also, The probands with 9repeat allele have more commission errors in ADS. Conclusion : The positive association between ADHD and DAT1 gene was replicated in this report like other previous results for caucasian children and Korean children with ADHD. There are ongoing studies on other candidate genes such as DRD4 and DRD5 and it would be required to explore the association of these candidate genes in Korean children with ADHD. These ongoing genetic research will contribute to the understanding of heterogenous genetic and environmental etiologies of ADHD phenotype, which will lead to the development of more comprehensive treatment and preventive interventions for ADHD.

• Korean Journal of Biological Psychiatry
• /
• v.29 no.2
• /
• pp.33-39
• /
• 2022

Objectives The early growth response 3 (EGR3) gene located in chromosome 8p21.3 is one of the susceptibility loci in many psychiatric disorders. EGR3 gene plays critical roles in signal transduction in the brain, which is involved in neuronal plasticity, neuronal development, learning, memory, and circadian rhythms. Recent studies have suggested EGR3 as a potential susceptibility gene for bipolar disorder (BPD). However, this requires further replication with an independent sample set. Methods To investigate the genetic role of EGR3 in Korean patients, we genotyped six single-nucleotide polymorphisms (SNPs) in the chromosome region of EGR3 in 1076 Korean BPD patients and 773 healthy control subjects. Results Among the six examined SNPs of EGR3 (rs17088531, rs1996147, rs3750192, rs35201266, rs7009708, rs1008949), SNP rs35201266, rs7009708, rs1008949 showed a significant association with BPD (p = 0.0041 for rs35201266 and BPD2, p = 0.0074 for rs1008949 and BPD, p = 0.0052 for rs1008949 and BPD1), which withstand multiple testing correction. In addition, the 'G-C-C-C' and 'G-C-G-C' haplotypes of EGR3 were overrepresented in the patients with BPD (p = 0.0055, < 0.0001, respectively) and the 'G-T-G-C' haplotype of EGR3 was underrepresented in patients with BPD (p = 0.0040). Conclusions In summary, our study supports the association of EGR3 with BPD in Korean population sample, and EGR3 could be suggested as a compelling susceptibility gene in BPD.

• Korean Journal of Biological Psychiatry
• /
• v.18 no.4
• /
• pp.176-180
• /
• 2011

Depressive disorders have strong genetic components. However, conventional linkage and association studies have not yielded definitive results. These might be due to the absence of objective diagnostic tests, the complex nature of human behavior or the incomplete penetrance of psychiatric traits. Imaging genetics explores the influences of genetic variation on the brain function or structure. This technique could provide a more sensitive assessment than traditional behavioral measures in psychiatric studies. Imaging genetics is a relatively new field of psychiatric researches, and may improve our understanding on neurobiology of psychiatric disorders. In this review, current understanding in neurobiology of depressive disorders, especially imaging genetic studies on serotonin transporter will be discussed.