• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.27-30
• /
• 2019

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.

• BMB Reports
• /
• v.49 no.2
• /
• pp.71-72
• /
• 2016

Focal cortical dysplasia type II (FCDII) is a focal malformation of the developing cerebral cortex and the major cause of intractable epilepsy. However, since the molecular genetic etiology of FCD has remained enigmatic, the effective therapeutic target for this condition has remained poorly understood. Our recent study on FCD utilizing various deep sequencing platforms identified somatic mutations in MTOR (existing as low as 1% allelic frequency) only in the affected brain tissues. We observed that these mutations induced hyperactivation of the mTOR kinase. In addition, focal cortical expression of mutant MTOR using in utero electroporation in mice, recapitulated the neuropathological features of FCDII, such as migration defect, cytomegalic neuron and spontaneous seizures. Furthermore, seizures and dysmorphic neurons were rescued by the administration of mTOR inhibitor, rapamycin. This study provides the first evidence that brain somatic activating mutations in MTOR cause FCD, and suggests the potential drug target for intractable epilepsy in FCD patients.

• Proceedings of the KIEE Conference
• /
• 1998.07a
• /
• pp.116-118
• /
• 1998

This paper describes a basic structure, analysis of characteristics and test method for high speed axial-gap BLDC motor. The newly designed axial-gap BLDC motor has 2-stator disks with 3-rotor disks and is easy to increase power capacity by increasing the numbers of stator/rotor disks. For high speed operating, the rotor is composed of light and strong strength material and has several separated magnets to reduce stress concentraction by centrifugal force.

• Journal of Korean Neurosurgical Society
• /
• v.61 no.3
• /
• pp.333-342
• /
• 2018

Intracranial germ cell tumors (iGCTs) are a heterogeneous group of tumors with peculiar characteristics clearly distinguished from other brain tumors of neuroepithelial origin. Diverse histology, similarity to gonadal GCT, predilection to one sex, and geographic difference in incidence all present enigmas and fascinating challenges. The treatment of iGCT has advanced for germinoma to date; thus, clinical attention has shifted from survival to long-term quality of life. However, for non-germinomatous GCT, current protocols provide only modest improvement and more innovative therapies are needed. Recently, next-generation sequencing studies have revealed the genomic landscape of iGCT. Novel mutations in the KIT-RAS-MAPK and AKT-MTOR pathways were identified. More importantly, methylation profiling revealed a new method to assess the pathogenesis of iGCT. Molecular research will unleash new knowledge on the origin of iGCT and solve the many mysteries that have lingered on this peculiar neoplasm for a long time.

• Animal Bioscience
• /
• v.36 no.7
• /
• pp.991-1002
• /
• 2023

Objective: This study aimed to elucidate the underlying gene regions responsible for productive, phenotypic or adaptive traits in different ecological types of Tibetan sheep and the discovery of important genes encoding valuable traits. Methods: We used whole-genome resequencing to explore the genetic relationships, phylogenetic tree, and population genetic structure analysis. In addition, we identified 28 representative Tibetan sheep single-nucleotide polymorphisms (SNPs) and genomic selective sweep regions with different traits in Tibetan sheep by fixation index (Fst) and the nucleotide diversity (θπ) ratio. Results: The genetic relationships analysis showed that each breed partitioned into its own clades and had close genetic relationships. We also identified many potential breed-specific selective sweep regions, including genes associated with hypoxic adaptability (MTOR, TRHDE, PDK1, PTPN9, TMTC2, SOX9, EPAS1, PDGFD, SOCS3, TGFBR3), coat color (MITF, MC1R, ERCC2, TCF25, ITCH, TYR, RALY, KIT), wool traits (COL4A2, ERC2, NOTCH2, ROCK1, FGF5, SOX9), and horn phenotypes (RXFP2). In particular, a horn-related gene, RXFP2, showed the four most significantly associated SNP loci (g. 29481646 A>G, g. 29469024 T>C, g. 29462010 C>T, g. 29461968 C>T) and haplotypes. Conclusion: This finding demonstrates the potential for genetic markers in future molecular breeding programs to improve selection for horn phenotypes. The results will facilitate the understanding of the genetic basis of production and adaptive unique traits in Chinese indigenous Tibetan sheep taxa and offer a reference for the molecular breeding of Tibetan sheep.

• Journal of Korea Entertainment Industry Association
• /
• v.15 no.7
• /
• pp.225-233
• /
• 2021

This study quantitatively compares and analyzes lower extremity muscle activity and motor neurons by performing blood flow-restricting aerobic training in the lower extremities, which is closely related to aerobic capacity for health, in normal people, and provides basic data to suggest the effectiveness of an effective blood-restricting exercise program. would like to provide A group of 10 people who applied aerobic exercise on a treadmill by restricting blood flow to 140 mmHg of pressure was set as Experimental Group I. And 11 people who applied only aerobic exercise on a treadmill were randomly assigned as a control group. The intervention program was implemented on a treadmill for 4 weeks, 3 times a week, once a day, for 30 minutes once. In addition, muscle activity and motor neurons were measured and analyzed using surface electromyography before intervention. As a result of the study, the muscle activity of the rectus femoris, biceps femoris, tibialis anterior and gastrocnemius was significantly increased (p<.001) in the pre-and-poster comparison within the group of experimental group I (p<.001). In the pre-and-poster comparison of the control group, the muscle activity of the rectus femoris, biceps femoris, tibialis anterior and gastrocnemius was significantly increased (p<.001). In comparison of changes between groups, there was a significant difference in the activity of the rectus femoris muscle (p<.05). Combining aerobic exercise in parallel with lower extremity blood flow restriction can be developed into an injury prevention exercise program that can restore functional activity in rehabilitation training for elite athletes and elderly people with weak joints. In addition, based on these results in future research, it is considered that it is necessary to expand the scope of non-normal subjects and conduct various studies according to the pressure intensity.