• 디지털융복합연구
• /
• 제17권10호
• /
• pp.359-372
• /
• 2019

대사증후군은 만성질환의 위험 또는 사망률과 높은 상관성을 갖는다. 그 중 소아 청소년기의 대사증후군은 성인기로 연결되어 심혈관계 질환 등으로 이행률이 높기 때문에 소아 청소년기의 대사증후군에 대한 논의가 필요하다. 이에 본 연구는 청소년을 대상으로 고탄수화물 및 고열량 등의 식생활습관과 대사증후군 관계를 규명하며, 나아가 청소년들이 지각하는 감성요인과 대사증후군간의 관계에 대해 밝히고자 한다. 결과, 대사증후군 판별을 위한 HDL-콜레스테롤에서 영향섭취 유형에 따른 유의한 결과를 얻었으며, 청소년의 대사증후군이 스트레스와 같은 감성요인의 경험에 따라 유의한 차이가 있음을 입증하였다. 이는 청소년 대사증후군을 예방, 관리하기 위한 국가보건정책의 기초를 마련하는데 기여하였다.

• BMB Reports
• /
• 제48권12호
• /
• pp.647-654
• /
• 2015

Energy homeostasis in our body system is maintained by balancing the intake and expenditure of energy. Excessive accumulation of fat by disrupting the balance system causes overweight and obesity, which are increasingly becoming global health concerns. Understanding the pathogenesis of obesity focused on studying the genes related to familial types of obesity. Recently, a rare human genetic disorder, ciliopathy, links the role for genes regulating structure and function of a cellular organelle, the primary cilium, to metabolic disorder, obesity and type II diabetes. Primary cilia are microtubule based hair-like membranous structures, lacking motility and functions such as sensing the environmental cues, and transducing extracellular signals within the cells. Interestingly, the subclass of ciliopathies, such as Bardet-Biedle and Alström syndrome, manifest obesity and type II diabetes in human and mouse model systems. Moreover, studies on genetic mouse model system indicate that more ciliary genes affect energy homeostasis through multiple regulatory steps such as central and peripheral actions of leptin and insulin. In this review, we discuss the latest findings in primary cilia and metabolic disorders, and propose the possible interaction between primary cilia and the leptin and insulin signal pathways which might enhance our understanding of the unambiguous link of a cell's antenna to obesity and type II diabetes.

• 대한유전성대사질환학회지
• /
• 제10권1호
• /
• pp.37-39
• /
• 2010

• 대한유전성대사질환학회지
• /
• 제13권2호
• /
• pp.75-80
• /
• 2013

Specific genetic conditions may lead to sudden unexpected deaths in infancy, such as inborn errors of fatty acid oxidation and genetic disorders of cardiac ion channels. The disease may present dramatically with severe hypoketotic hypoglycemia, Reye syndrome or sudden death, typically with a peak of frequency around 3-6 month, whilst neonatal sudden death is quite rare. When undetected, approximately 20-25% of infants will die or suffer permanent neurologic impairment as a consequence of the first acute metabolic decompensation. Meanwhile, the advent of newborn screening for metabolic diseases has revealed populations of patients with disorders of fatty acid oxidation (FAO), the most frequent of which is medium chain acyl-CoA dehydrogenase (MCAD) deficiency. Without this screening, affected individuals would likely succumb to sudden infant death syndrome (SIDS). Here we describe an overview of sudden infant death syndrome and inherited metabolic disorder.

• BMB Reports
• /
• 제49권10호
• /
• pp.536-541
• /
• 2016

The prevalence of obesity and type 2 diabetes, two closely linked metabolic disorders, is increasing worldwide. Over the past decade, the connection between these disorders and the microbiota of the gut has become a major focus of biomedical research, with recent studies demonstrating the fundamental role of intestinal microbiota in the regulation and pathogenesis of metabolic disorders. Because of the complexity of the microbiota community, however, the underlying molecular mechanisms by which the gut microbiota is associated with metabolic disorders remain poorly understood. In this review, we summarize recent studies that investigate the role of the microbiota in both human subjects and animal models of disease and discuss relevant therapeutic targets for future research.

• Biomolecules & Therapeutics
• /
• 제29권6호
• /
• pp.596-604
• /
• 2021

Different lifestyles have an impact on useful metabolic functions, causing disorders. Different lipids are involved in the metabolic functions that play various vital roles in the body, such as structural components, storage of energy, in signaling, as biomarkers, in energy metabolism, and as hormones. Inter-related disorders are caused when these functions are affected, like diabetes, cancer, infections, and inflammatory and neurodegenerative conditions in humans. During the Covid-19 period, there has been a lot of focus on the effects of metabolic disorders all over the world. Hence, this review collectively reports on research concerning metabolic disorders, mainly cardiovascular and diabetes mellitus. In addition, drug research in lipid metabolism disorders have also been considered. This review explores lipids, metabolism, lipid metabolism disorders, and drugs used for these disorders.

• 한국임상약학회지
• /
• 제28권4호
• /
• pp.273-278
• /
• 2018

Bile acids are major constituents of bile and known to help absorb dietary fat and fat-soluble vitamins in the gastrointestinal tract. In the past few decades, many studies have shown that bile acids not only play a role in fat digestion but also function as broad range of signal transduction hormones by binding to various receptors present in cell membranes or nuclei. Bile acid receptors are distributed in a wide range of organs and tissues in the human body. They perform multitudes of physiological functions with complex mechanisms. When bile acids bind to their receptors, they regulate fat and glucose metabolism in a tissue-specific way. In addition, bile acids are shown to inhibit inflammation and fibrosis in the liver. Considering the roles of bile acids as metabolic regulators, bile acids and their receptors can be very attractive targets in treating metabolic disorders. In the future, if roles of bile acids and their receptors are further clarified, they will be the novel target of drugs in the treatment of various metabolic diseases.

• 대한유전성대사질환학회지
• /
• 제15권2호
• /
• pp.65-71
• /
• 2015

Since the secretion of specific chiral isomers in urine (or plasma) is very crucial to diagnose some inborn metabolic disorders, clinical application of dual column achiral differential method has been performed for the absolute configuration of chiral compounds. Extracted from the acidified urine with diethyl ether, carboxylic functional group of organic acid (stereoisomers of the volatile) was derivatized with (-)-menthylation or (S)-(+)-3-methyl-2-butylation and followed by O-trifluoroacylation. Each of the enantiomers was accurately separated from the library matched double column (achiral) with a retention index (I). In various inborn metabolic disease urines, absolute chirality was identified correctly in the urine (10 patients) with inborn metabolic disease (including secretion of D, L- lactic acid, D, L-3-hydroxybutyric acid, and D, L-2-hydroxyglutaric acid). In this study, we identified and isolated the volatile diastereomer as a useful diagnostic marker, this successful application to urine specimens may be useful for diagnostic classification of inherited metabolic disorders.

• 가정간호학회지
• /
• 제16권1호
• /
• pp.12-21
• /
• 2009

Purpose: The survey-based study aimed to determine the distribution and clustering tendency of metabolic syndrome risk factors in urban residents, and cluster odds ratios. Methods: Cluster sampling involved 827 urban participants and analysis of the collected data. Results: Regarding the prevalence of metabolic syndrome risk factors used for diagnosis, abdominal obesity was higher in women(69.5%) than in men(34.3%), high blood pressure was higher in men(57%) than in women(46.5%), and blood sugar was higher in men(6.9%) than in women(5.7%). Clustering increased with increasing body mass index(BMI), weight:height ratio(W/Ht) and abdominal obesity Risk factors for females were 1.7 times higher than for males. Participants with a family history of metabolic syndrome displayed related risk factors 1.5 times more than participants without a family history. Participants having a BMI ranking them as obese were 9.5 times more likely to display metabolic syndrome risk factors than non-obese participants. Obese participants were 20 times more likely to display risk factors than non-obese participants. Conclusion: BMI, W/Ht and abdominal obesity correlate with clustering of metabolic syndrome risk factors. The risk is increased by smoking and family history. Exercise weight control and non-smoking are recommended for comprehensive management of clustering of metabolic syndrome risk factors.

• 대한유전성대사질환학회지
• /
• 제22권1호
• /
• 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.