조현병, 조현정동장애 외래 환자들의 대사증후군 유병률

이화영,최정은 대한조현병학회 2012 대한조현병학회지 Vol.15 No.1

Objectives : The aim of this study were to assess a) the prevalence of metabolic syndrome in outpatients with schizophrenia or schizoaffective disorder, b) the comparison of characteristics of patients with or without the metabolic syndrome, c) the sensitivity, specificity and positive predictive values of individual criteria for metabolic syndrome. Methods : This study assessed the prevalence of the metabolic syndrome among 128 schizophrenia or schizoaffective disorder patients using the National Cholesterol Education Program-Adult Treatment Panel III. Results : Of patients, 54.7% (M : 49.3%, F : 61.4%) had metabolic syndrome. The metabolic syndrome was associated with medical history of diabetes, hypertension and dyslipidemia. Presence of abdominal obesity was most sensitive (97.1%), while raised fasting glucose was most specific (89.7%). Combining abdominal obesity/raised triglycerides and abdominal obesity/low HDL cholesterol had 100% sensitivity. Conclusion : The metabolic syndrome is highly prevalent among outpatients with schizophrenia or schizoaffective disorder. This study suggests that the measurement of abdominal obesity is a simple test to identify individuals at high risk for metabolic syndrome. Objectives : The aim of this study were to assess a) the prevalence of metabolic syndrome in outpatients with schizophrenia or schizoaffective disorder, b) the comparison of characteristics of patients with or without the metabolic syndrome, c) the sensitivity, specificity and positive predictive values of individual criteria for metabolic syndrome. Methods : This study assessed the prevalence of the metabolic syndrome among 128 schizophrenia or schizoaffective disorder patients using the National Cholesterol Education Program-Adult Treatment Panel III. Results : Of patients, 54.7% (M : 49.3%, F : 61.4%) had metabolic syndrome. The metabolic syndrome was associated with medical history of diabetes, hypertension and dyslipidemia. Presence of abdominal obesity was most sensitive (97.1%), while raised fasting glucose was most specific (89.7%). Combining abdominal obesity/raised triglycerides and abdominal obesity/low HDL cholesterol had 100% sensitivity. Conclusion : The metabolic syndrome is highly prevalent among outpatients with schizophrenia or schizoaffective disorder. This study suggests that the measurement of abdominal obesity is a simple test to identify individuals at high risk for metabolic syndrome.

양극성장애 환자에서 혈중 Leptin, Ghrelin, Adiponectin 농도와 대사증후군의 관계

김은영,안용민,이현정,이남영,유한영,김용식 대한우울조울병학회 2011 우울조울병 Vol.9 No.3

Objectives : We aimed to investigate the association between metabolic syndrome and serum leptin, active ghrelin,and adiponectin levels in patients with bipolar disorder. Methods : A total of 100 Korean bipolar patients were assessed for the diagnosis of metabolic syndrome and their serum leptin, active ghrelin, and adiponectin levels were measured. Results : Metabolic syndrome was found in 29% ; 42.5% of men and 20.0% of women. Abnormality of waist circumference was reported most frequently for both sexes (57.5%). Male patients showed significantly higher serum leptin, active ghrelin, adiponectin levels than female. In both sexes, leptin levels were significantly correlated with higher waist circumference and BMI, which were negatively correlated with active ghrelin levels. Male patients with metabolic syndrome showed significantly lower active ghrelin levels than those without, whereas leptin and active ghrelin levels were not different according to the presence of metabolic syndrome in box sexes. Conclusion : Metabolic syndrome was frequent in patients with bipolar disorder and abnormality of waist circumference was the most frequent subcomponent of metabolic syndrome. Serum active ghrelin levels were lower in male patients with metabolic syndrome. (J of Kor Soc for Dep and Bip Disorders 2011;9:194-201)

Tandem Mass Spectrometry를 이용한 선천성 대사이상질환 선별검사 7년간의 경험

송선미(Sean-Mi Song),윤혜란(Hye-Ran Yoon),이안나(Anna Lee),이경률(Kyoung-Ryul Lee) 대한의학유전학회 2008 대한의학유전학회지 Vol.5 No.1

Purpose : In recent years, many countries have adopted newborn screening programs that use tandem mass spectrometry (MS/MS) to screen and the number of diseases screened has also increased. We began screening for inherited metabolic disorders using MS/MS in April, 2001. Our goal was to determine the overall prevalence of metabolic disorders and to assess the effectiveness of newborn screening by MS/MS in Korea. Methods : From April, 2001 to December, 2007, we screened newborns and high risk groups using MS/MS. Acylcarnitines and amino acids were extracted and butylated and were introduced into the inlet of MS/MS. Confirmatory testing including a repeat newborn screening, and urine organic acid and plasma amino acid analysis were performed on a case-by-case basis. Results : The total number of screened subjects 284,933 which comprised 251,799 neonates and 33,134 high risk subjects. The recall rate was 0.4% (1158 tests) and true positive cases were 117 (0.04%). Confirmed metabolic disorders (newborn/high risk group) were as follows; 78 (25/53) amino acid disorders, 27 (16/11) organic acid disorders, and 12 (5/7) fatty acid oxidation disorders. The estimated prevalence of inherited metabolic diseases in newborns was 1:5,000 and that in the total group was 1:2,000. Conclusion : Newborn screening by MS/MS improved the detection of many inherited metabolic disorders. We therefore propose that all newborns be screened by a MS/MS national program and followed-up using a systemic organization strategy. 목적 : 최근 여러 국가에서 빠르게 탠덤매스 신생아 선천성 대사이상질환 선별 프로그램을 채택하고 있으며 많은 질환들이 검출되고 있다. 본 기관에서는 2001년 4월부터 탠덤매스 선천성 대사이상 질환 신생아 선별 검사를 시작하였다. 연구자들은 한국에서의 탠덤매스 선천성 대사이상질환 검출율 및 탠덤매스 유용성에 대해 평가하고자 하였다. 방법 : 2001년 4월부터 2007년 12월까지 본원에서는 탠덤매스를 이용하여 신생아 및 고위험군에 대해 선별검사를 시행하였다. 검체로부터 아실카르틴과 아미노산을 추출하여 부탄올로 유도체화시킨 후 탠덤매스에 장착하여 분석하였다. 탠덤매스 선별검사 재검, 소변 유기산 및 혈장 아미노산검사 등을 포함한 확진 검사는 개별적으로 시행되었다. 결과 : 총 의뢰건수는 284,933건으로 신생아 251,799건 및 고위험군 33,134건이었다. 소환율은 0.4%(1158건)이었으며, 이들 중 true positive는 117건(0.04%)이었다. 아미노산 대사 이상 질환은 총 78건(25/53), 유기산 대사이상 질환은 총 27건(16/11건) 및 지방산 산화대사이상 질환은 총 12건(5/7건)으로 전체 질환에 대한 검출율은 신생아 1:5,000이었으며 전체군 1:2,000이었다. 결론 : 탠덤매스 신생아 선별검사는 조기 진단 및 치료가 필요한 많은 선천성 대사이상질환의 검출을 용이하게 해주었다. 그러므로, 반드시 모든 신생아들에 대한 국가지원 탠덤매스 선별검사 확대 적용 및 추적관리 시스템이 구축이 필요할 것으로 판단된다.

Tandem Mass Spectrometric Analysis for Disorders in Amino, Organic and Fatty Acid Metabolism : 2 Years of SCL Experience in Korea

Yoon, Hye-Ran,Lee, Kyung Ryul The Korean Society of Inherited Metabolic Disease 2003 대한유전성대사질환학회지 Vol.3 No.1

Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with $150{\mu}L$ of methanol containing isotopically labelled amino acids (AA) and acylcarnitines (AC) internal standards. Butanolic HCl was added and incubated at $65^{\circ}C$ for 15 min. The butylated extract was introduced into the inlet of MS/MS. Neutral loss of m/z 102 and parent ion mode of m/z 85 were set for the analyses of AA and AC, respectively. Diagnosis was confirmed by repeating acylcarnitine profile, urine organic acid and plasma amino acid analysis, direct enzyme assay, or molecular testing. Results : Approximately 31,000 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2384/1:2066, 96.55%, 99.98%, and 0.73%, respectively. Confirmed 28 (0.09%) multiple metabolic disorders (newborn/high risk) were as follows; 13 amino acid disorders [classical PKU (3/4), BH4 deficient-hyperphenylalaninemia (0/1), Citrullinemia (1/0), Homocystinuria (0/2), Hypermethioninemia (0/1), Tyrosinemia (1/0)], 8 organic acidurias [Propionic aciduria (2/1), Methylmalonic aciduria (0/1), Isovaleric aciduria (1/1), 3-methylcrotonylglycineuria (1/0), Glutaric aciduria type1 (1/0)], 7 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def. (0/1), VLCAD def. (1/0), LC3KT def. (0/1). Conclnsion : The relatively normal development of 10 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochmical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.

Assessment of Cognitive Impairment in a Mouse Model of High-Fat Diet-Induced Metabolic Stress with Touchscreen-Based Automated Battery System

이새람,김종열,김어수,서경률,강연재,김재영,김철훈,송호택,Lisa M. Saksida,이종은 한국뇌신경과학회 2018 Experimental Neurobiology Vol.27 No.4

Obesity-related metabolic disorders can affect not only systemic health but also brain function. Recent studies have elucidated that amyloid beta deposition cannot satisfactorily explain the development of Alzheimer’s disease (AD) and that dysregulation of glucose metabolism is a critical factor for the sporadic onset of non-genetic AD. Identifying the pathophysiology of AD due to changes in brain metabolism is crucial; however, it is limited in measuring changes in brain cognitive function due to metabolic changes in animal models. The touchscreen-based automated battery system, which is more accurate and less invasive than conventional behavioral test tools, is used to assess the cognition of mice with dysregulated metabolism. This system was introduced in humans to evaluate cognitive function and was recently back-translated in monkeys and rodents. We used outbred ICR mice fed on highfat diet (HFD) and performed the paired associates learning (PAL) test to detect their visual memory and new learning ability loss as well as to assess memory impairment. The behavioral performance of the HFD mice was weaker than that of normal mice in the training but was not significantly associated with motivation. In the PAL test, the average number of trials completed and proportion of correct touches was significantly lower in HFD mice than in normal diet-fed mice. Our results reveal that HFD-induced metabolic dysregulation has detrimental effects on operant learning according to the percentage of correct responses in PAL. These findings establish that HFD-induced metabolic stress may have an effect in accelerating AD-like pathogenesis.

Lipid Metabolism, Disorders and Therapeutic Drugs - Review

( Vijayakumar Natesan ),( Sung-jin Kim ),( Yeseul Jang ),( Sung Hoon Lee ) 한국응용약물학회 2021 Biomolecules & Therapeutics(구 응용약물학회지) Vol.29 No.6

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.

Inherited Metabolic Disorders Involving the Eye

정재호,Jae Ho, Jung The Korea Society of Inherited Metabolic Disease 2022 대한유전성대사질환학회지 Vol.22 No.2

Inherited metabolic disorders (IMD) are a large group of rare disorders affecting normal biochemical pathways. The ophthalmic involvement can be very varied affecting any part of the eye, including abnormalities of cornea, lens dislocation and cataracts, retina and the optic nerve, and extraocular muscles. Eye disorders can be initial symptoms of some IMD and can be clue for diagnosis of IMD. However, eye disorders can evolve later in the natural history of an already diagnosed metabolic disorder. Awareness of IMDs is important to facilitate early diagnosis and in some cases instigate early treatment if a patient presents with eye involvement suggestive of a metabolic disorder. Ophthalmological interventions are also an important component of the multisystem holistic approach to treating patients with metabolic disorders.

The gut microbiota: a key regulator of metabolic diseases

( Jin-young Yang ),( Mi-na Kweon ) 생화학분자생물학회(구 한국생화학분자생물학회) 2016 BMB Reports Vol.49 No.10

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. [BMB Reports 2016; 49(10): 536-541]

Invited Mini Review : Revisiting PPARγ as a target for the treatment of metabolic disorders

( Sun Sil Choi ),( Jiyoung Park ),( Jang Hyun Choi ) 생화학분자생물학회(구 한국생화학분자생물학회) 2014 BMB Reports Vol.47 No.11

As the prevalence of obesity has increased explosively over the last several decades, associated metabolic disorders, including type 2 diabetes, dyslipidemia, hypertension, and cardiovascular diseases, have been also increased. Thus, new strategies for preventing and treating them are needed. The nuclear peroxisome proliferator-activated receptors (PPARs) are involved fundamentally in regulating energy homeostasis; thus, they have been considered attractive drug targets for addressing metabolic disorders. Among the PPARs, PPARγ is a master regulator of gene expression for metabolism, inflammation, and other pathways in many cell types, especially adipocytes. It is a physiological receptor of the potent anti-diabetic drugs of the thiazolidinediones (TZDs) class, including rosiglitazone (Avandia). However, TZDs have undesirable and severe side effects, such as weight gain, fluid retention, and cardiovascular dysfunction. Recently, many reports have suggested that PPARγ could be modulated by post-translational modifications (PTMs), and modulation of PTM has been considered as novel approaches for treating metabolic disorders with fewer side effects than the TZDs. In this review, we discuss how PTM of PPARγ may be regulated and issues to be considered in making novel anti-diabetic drugs that can modulate the PTM of PPARγ. [BMB Reports 2014; 47(11): 599-608]

Is Foetal Programming by Mismatched Pre- and Postnatal Nutrition Contributing to the Prevalence of Obesity in Nepal?

Prabhat Khanal,Mette Olaf Nielsen 한국식품영양과학회 2019 Preventive Nutrition and Food Science Vol.24 No.3

Nepal and many developing countries are currently suffering from increased prevalence of obesity, type 2 diabetes, and other metabolic disorders. Unhealthy dietary habits and physical inactivity are traditionally considered as responsible factors for these disorders. The relatively new concept of foetal programming suggests that development of metabolic diseases later in life may be associated with poor nutritional status in utero, and such phenomenon could be amplified by subsequent exposure to unhealthy diets after birth. We suggest that foetal programming and mismatched nutritional situations during foetal and postnatal life are important causative factors for increased prevalence of obesity and metabolic disorders in Nepal. Issues highlighted in this paper may also be relevant to other developing countries with similar socioeconomic status. Undernutrition in foetal life can predispose for visceral fat deposition and may alter dietary preferences towards unhealthy diets, amplifying the risk of nutritional mismatch after birth; this can lead to metabolic disturbances in a number of pathways including glucose and lipid metabolism. Providing attention to early life nutrition could therefore be an important tool to reduce the prevalence of lifestyle diseases in Nepal. Future national health policies should thus include changes in research and intervention activities towards preventing averse early life nutritional programming. Availability of free-of-cost and mandatory nutritional education and medical services to pregnant women and their families and better management of national health care systems including digitalization of national health data could be viable strategies to achieve these goals.